ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.188G>T (p.Cys63Phe)

dbSNP: rs879254427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000508827 SCV005375283 uncertain significance Hypercholesterolemia, familial, 1 2023-03-27 reviewed by expert panel curation The NM_000527.5(LDLR):c.188G>T (p.Cys63Phe) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying ACMG/AMP evidence codes PM1, PM2 and PP3 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on 27 March 2023. The supporting evidence is as follows: PM2: This variant is absent from gnomAD (gnomAD v2.1.1). PP3: REVEL = 0.921. PM1: Variant is missense, meets PM2, and alters Cys63, one of the 60 highly conserved cysteine residues.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508827 SCV000606035 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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