Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SNPedia | RCV000210835 | SCV000267116 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-04-03 | criteria provided, single submitter | literature only | |
Labcorp Genetics |
RCV002517439 | SCV003443096 | uncertain significance | Familial hypercholesterolemia | 2022-04-28 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 119 of the LDLR protein (p.Gly119Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of LDLR-related conditions and/or LDLR-related conditions (PMID: 27050191; Invitae). ClinVar contains an entry for this variant (Variation ID: 225179). 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. |