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Hypercholesterolemia, familial, 1

LDLR · rs370471092

Where this position leads

Condition: Hypercholesterolemia, Familial, 1

rs370471092 Condition: Hypercholesterolemia, Familial, 1 Hypercholesterolemia, Familial, 1 Condition rs370471092 rs370471092 LDLR

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 Uncertain significance for Hypercholesterolemia, familial, 1, Familial hypercholesterolemia, Hypercholesterolemia, Cardiovascular phenotype, Dyslipidemia; reviewed by expert panel (3 of 4 stars, 20 submitters), last evaluated 2025-01-31. ClinVar record 161275 NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)

Classification Pathogenic for Hypercholesterolemia, familial, 1; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2026-02-11. ClinVar record 430770 NM_000527.5(LDLR):c.1057G>T (p.Glu353Ter)

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 Hypercholesterolemia, familial, 1. This is the usual result. (ClinVar VCV000430770, criteria provided, multiple submitters, no conflicts)
G/T One copy of the version ClinVar lists as disease-causing for Hypercholesterolemia, familial, 1. 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 VCV000430770, criteria provided, multiple submitters, no conflicts)
T/T Two copies of the version ClinVar lists as disease-causing for Hypercholesterolemia, familial, 1. 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 VCV000430770, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000430770, criteria provided, multiple submitters, no conflicts

Questions about rs370471092

What is rs370471092?

rs370471092 is a single position in the genome, in or near the LDLR gene. Published research associates it with hypercholesterolemia, familial, 1. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs370471092 linked to?

On MyGeneLog this position is linked to Hypercholesterolemia, Familial, 1. The research behind each link, and its sources, are set out on that condition page.

Does having rs370471092 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 rs370471092 come from?

ClinVar VCV000430770, 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

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

Hypercholesterolemia, familial, 1 (rs370471092). MyGeneLog™. https://www.mygenelog.com/variants/rs370471092

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