ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.139G>C (p.Asp47His)

dbSNP: rs778284147
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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 RCV000508959 SCV002506332 uncertain significance Hypercholesterolemia, familial, 1 2021-12-13 reviewed by expert panel curation The NM_000527.5(LDLR):c.139G>C (p.Asp47His) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence codes (PM2 and PP3) as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1101/2021.03.17.21252755 The supporting evidence is as follows: PM2 - This variant is absent from gnomAD (gnomAD v2.1.1). PP3 - REVEL = 0.977. It is above 0.75, so met.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508959 SCV000606025 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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