Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238436 | SCV000295064 | likely benign | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000238436 | SCV000503256 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 3 , family members = 2 with co-segregation c.932A>G, c.939C>G / p.Lys311Arg, p.Cys313Trp systematicaly associated (Van Leuven et al. Atherosclerosis 2001) / Software predictions: Conflicting |
Invitae | RCV000791455 | SCV000830603 | uncertain significance | Familial hypercholesterolemia | 2018-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with arginine at codon 311 of the LDLR protein (p.Lys311Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with hypercholesterolemia (PMID: 1301940, 15523646, 20506408 ). This variant is also known as K290R in the literature. ClinVar contains entries for this variant (Variation ID: 251532, 430769). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
Color | RCV000791455 | SCV001349542 | uncertain significance | Familial hypercholesterolemia | 2019-05-30 | criteria provided, single submitter | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000238436 | SCV000606272 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |