Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237116 | SCV000295798 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Color Diagnostics, |
RCV000776246 | SCV000911497 | likely benign | Familial hypercholesterolemia | 2017-07-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000776246 | SCV001010946 | benign | Familial hypercholesterolemia | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000237116 | SCV001286048 | uncertain significance | Hypercholesterolemia, familial, 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Ambry Genetics | RCV002418059 | SCV002719089 | likely benign | Cardiovascular phenotype | 2023-06-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Gene |
RCV003105835 | SCV003761835 | uncertain significance | not provided | 2023-01-24 | criteria provided, single submitter | clinical testing | Identified in association with FH (Humphries et al., 2006); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 16389549, 34040191) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003105835 | SCV004219967 | uncertain significance | not provided | 2023-09-15 | criteria provided, single submitter | clinical testing | In the published literature, this variant has been reported in individuals affected with hypercholesterolemia (PMIDs: 16389549 (2006), 20236128 (2010), 34040191 (2021)). The frequency of this variant in the general population, 0.0014 (14/10076 chromosomes in Ashkenazi Jewish subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on LDLR mRNA splicing yielded inconclusive findings . Based on the available information, we are unable to determine the clinical significance of this variant. |