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Familial partial lipodystrophy, Dunnigan type

LMNA · rs60864230

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Conflicting classifications of pathogenicity for Charcot-Marie-Tooth disease type 2, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 2, autosomal dominant and 10 more; criteria provided, conflicting classifications (1 of 4 stars, 13 submitters), last evaluated 2026-01-13. ClinVar record 200934 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)

Classification Pathogenic for Familial partial lipodystrophy, Dunnigan type, Hutchinson-Gilford progeria syndrome, childhood-onset, Charcot-Marie-Tooth disease type 2; criteria provided, single submitter (1 of 4 stars, 3 submitters), last evaluated 2020-07-05. ClinVar record 14488 NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)

Classification Likely pathogenic for Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Charcot-Marie-Tooth disease type 2; criteria provided, single submitter (1 of 4 stars, 3 submitters), last evaluated 2020-03-26. ClinVar record 14508 NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

G/G No copy of the version ClinVar lists as disease-causing for Familial partial lipodystrophy, Dunnigan type. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000014488, criteria provided, single submitter)
G/T One copy of the version ClinVar lists as disease-causing for Familial partial lipodystrophy, Dunnigan type. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. So far only one lab has made this call, so it may change. (ClinVar VCV000014488, criteria provided, single submitter)
T/T Two copies of the version ClinVar lists as disease-causing for Familial partial lipodystrophy, Dunnigan type. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. So far only one lab has made this call, so it may change. (ClinVar VCV000014488, criteria provided, single submitter)

Source: ClinVar VCV000014488, criteria provided, single submitter

Questions about rs60864230

What is rs60864230?

rs60864230 is a single position in the genome, in or near the LMNA gene. Published research associates it with familial partial lipodystrophy, dunnigan type. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs60864230 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs60864230 come from?

ClinVar VCV000014488, criteria provided, single submitter. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Familial partial lipodystrophy, Dunnigan type (rs60864230). MyGeneLog™. https://www.mygenelog.com/variants/rs60864230

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