ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1733T>C (p.Val578Ala)

gnomAD frequency: 0.00002  dbSNP: rs72658864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000495915 SCV000583873 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404297 SCV002713888 uncertain significance Cardiovascular phenotype 2021-05-25 criteria provided, single submitter clinical testing The p.V578A variant (also known as c.1733T>C), located in coding exon 12 of the LDLR gene, results from a T to C substitution at nucleotide position 1733. The valine at codon 578 is replaced by alanine, an amino acid with similar properties. In genome-wide association studies (GWAS) performed in a Sardinian population, this variant has been suggested to have some association with dyslipidemia risks (Sanna S et al. PLoS Genet, 2011 Jul;7:e1002198; Sidore C et al. Nat Genet, 2015 Nov;47:1272-1281). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, University Hospital Muenster RCV003128404 SCV003804916 pathogenic See cases criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP2,PP3,PP4,PP5,BP1

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