LDLR · rs879254456
Where this position leads
Condition: Hypercholesterolemia, Familial, 1
Strength of the evidence
ClinVar classifies it as disease-causing (or likely), reviewed at 3 of 4 stars.
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 Hypercholesterolemia, familial, 1, Familial hypercholesterolemia, LDLR-related disorder; reviewed by expert panel (3 of 4 stars, 8 submitters), last evaluated 2024-02-23.
ClinVar record 251112 NM_000527.5(LDLR):c.283T>G (p.Cys95Gly)
Classification
Pathogenic/Likely pathogenic for Hypercholesterolemia, familial, 1; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2026-07-22.
ClinVar record 251110 NM_000527.5(LDLR):c.283T>A (p.Cys95Ser)
Classification
Pathogenic/Likely pathogenic for Hypercholesterolemia, familial, 1, Cardiovascular phenotype, Familial hypercholesterolemia; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2025-04-18.
ClinVar record 251111 NM_000527.5(LDLR):c.283T>C (p.Cys95Arg)
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.
Source: ClinVar VCV000251110, criteria provided, multiple submitters, no conflicts
rs879254456 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.
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.
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.
ClinVar VCV000251110, 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.
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 (rs879254456). MyGeneLog™. https://www.mygenelog.com/variants/rs879254456