Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000003930 | SCV000295350 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Fundacion Hipercolesterolemia Familiar | RCV000003930 | SCV000607582 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Invitae | RCV001851630 | SCV002176476 | pathogenic | Familial hypercholesterolemia | 2022-08-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects LDLR function (PMID: 1446662). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 3732). This variant is also known as p.Asp412His. This missense change has been observed in individuals with familial hypercholesterolemia (PMID: 1446662, 31491741). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 433 of the LDLR protein (p.Asp433His). |
OMIM | RCV000003930 | SCV000024095 | pathogenic | Hypercholesterolemia, familial, 1 | 1992-11-15 | no assertion criteria provided | literature only | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000003930 | SCV000606385 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |