ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1448G>T (p.Trp483Leu)

dbSNP: rs875989921
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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 RCV000508884 SCV004022409 uncertain significance Hypercholesterolemia, familial, 1 2023-04-29 reviewed by expert panel curation The NM_000527.5(LDLR):c.1448G>T (p.Trp483Leu) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence codes (PM2, PP3) as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: PM2 - This variant is absent from gnomAD (gnomAD v2.1.1), so PM2 is Met. PP3 - REVEL = 0.933. It is above 0.75, so PP3 is Met.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508884 SCV000606431 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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