ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys)

dbSNP: rs879254907
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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 RCV000237631 SCV004022408 uncertain significance Hypercholesterolemia, familial, 1 2023-04-28 reviewed by expert panel curation The NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence codes (PM2, PP3, PP4) 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 = 0.951. It is above 0.75, so PP3 is Met. PP4 - Variant meets PM2 and is identified in 1 index case with Simon Broome criteria from Poland (PMID 26892515), after alternative causes of high cholesterol were excluded.
LDLR-LOVD, British Heart Foundation RCV000237631 SCV000295441 uncertain significance Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237631 SCV000606433 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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