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Congenital muscular dystrophy due to LMNA mutation

LMNA · rs863225270

Strength of the evidence

3 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 2 of 4 stars.

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 Likely pathogenic for Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2024-10-17. ClinVar record 804298 NM_170707.4(LMNA):c.80C>T (p.Thr27Ile)

Classification Uncertain significance for Paroxysmal familial ventricular fibrillation, Charcot-Marie-Tooth disease type 2; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2024-04-22. ClinVar record 217834 NM_170707.4(LMNA):c.80C>G (p.Thr27Ser)

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

C/C No copy of the version ClinVar lists as likely disease-causing for Congenital muscular dystrophy due to LMNA mutation. This is the usual result. (ClinVar VCV000804298, criteria provided, multiple submitters, no conflicts)
C/T One copy of the version ClinVar lists as likely disease-causing for Congenital muscular dystrophy due to LMNA mutation. 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. (ClinVar VCV000804298, criteria provided, multiple submitters, no conflicts)
T/T Two copies of the version ClinVar lists as likely disease-causing for Congenital muscular dystrophy due to LMNA mutation. 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. (ClinVar VCV000804298, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000804298, criteria provided, multiple submitters, no conflicts

Questions about rs863225270

What is rs863225270?

rs863225270 is a single position in the genome, in or near the LMNA gene. Published research associates it with congenital muscular dystrophy due to lmna mutation. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs863225270 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 rs863225270 come from?

ClinVar VCV000804298, criteria provided, multiple submitters, no conflicts. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Congenital muscular dystrophy due to LMNA mutation (rs863225270). MyGeneLog™. https://www.mygenelog.com/variants/rs863225270

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