ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.737G>T (p.Gly246Val)

dbSNP: rs879254661
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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 RCV000508850 SCV004022393 uncertain significance Hypercholesterolemia, familial, 1 2023-04-01 reviewed by expert panel curation The NM_000527.5(LDLR):c.737G>T (p.Gly246Val) 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/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: PM2:This variant is absent from gnomAD (gnomAD version 2.1.1). PP3: REVEL score is 0.87, this is greater than 0.75.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508850 SCV000606213 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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