Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
U4M - |
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, |
RCV003128404 | SCV003804916 | pathogenic | See cases | criteria provided, single submitter | clinical testing | ACMG categories: PM1,PM2,PP2,PP3,PP4,PP5,BP1 |