ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg)

dbSNP: rs879254944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000238413 SCV002568118 uncertain significance Hypercholesterolemia, familial, 1 2022-01-18 reviewed by expert panel curation NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg) variant is classified as variant of Uncertain significance for Familial Hypercholesterolemia by applying evidence codes (PM2 and PP3) as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines ( The supporting evidence is as follows: PM2 - This variant is absent from gnomAD (gnomAD v2.1.1). PP3 - REVEL = 0.966
LDLR-LOVD, British Heart Foundation RCV000238413 SCV000295506 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238413 SCV000606457 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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