Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000211659 | SCV000295672 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000211659 | SCV000503416 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 / previously described in association with FH/software prediction damaging |
U4M - |
RCV000211659 | SCV000583886 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Fundacion Hipercolesterolemia Familiar | RCV000211659 | SCV000607643 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Ambry Genetics | RCV004020585 | SCV005035981 | likely pathogenic | Cardiovascular phenotype | 2024-01-12 | criteria provided, single submitter | clinical testing | The p.L605P variant (also known as c.1814T>C), located in coding exon 12 of the LDLR gene, results from a T to C substitution at nucleotide position 1814. The leucine at codon 605 is replaced by proline, an amino acid with similar properties. This alteration has been reported in subjects with familial hypercholesterolemia (FH) (Shin JA et al. Clin Genet, 2000 Mar;57:225-9; Alonso R et al. Clin Biochem, 2009 Jun;42:899-903; Hooper AJ et al. Atherosclerosis, 2012 Oct;224:430-4; Wintjens R et al. J Lipid Res, 2016 Mar;57:482-91). This variant is also considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |
Cardiovascular Genetics Laboratory, |
RCV000211659 | SCV000268640 | pathogenic | Hypercholesterolemia, familial, 1 | 2008-06-19 | no assertion criteria provided | clinical testing |