Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237354 | SCV000295578 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800608 | SCV002047013 | uncertain significance | not provided | 2021-04-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002401940 | SCV002712678 | uncertain significance | Cardiovascular phenotype | 2021-01-07 | criteria provided, single submitter | clinical testing | The p.P563H variant (also known as c.1688C>A and legacy p.P542H), located in coding exon 11 of the LDLR gene, results from a C to A substitution at nucleotide position 1688. The proline at codon 563 is replaced by histidine, an amino acid with similar properties. This variant has been reported in overlapping Dutch familial hypercholesterolemia cohorts, including one study where it was detected in a pediatric case with autosomal dominant hypercholesterolemia; however, specific clinical details were limited (Lombardi MP et al. Clin Genet, 2000 Feb;57:116-24; Fouchier SW et al. Hum Genet, 2001 Dec;109:602-15; van der Graaf A et al. Circulation, 2011 Mar;123:1167-73). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000237354 | SCV000606483 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |