Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238452 | SCV000294486 | likely benign | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Laboratory for Molecular Medicine, |
RCV000455469 | SCV000539517 | uncertain significance | not specified | 2016-08-12 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in probands, but no segregation data; ClinVar: 1 LB, 1 VUS |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985762 | SCV001134252 | uncertain significance | not provided | 2019-06-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001191123 | SCV001358822 | uncertain significance | Familial hypercholesterolemia | 2023-03-08 | criteria provided, single submitter | clinical testing | This missense variant (also known as p.Ala29Thr in the mature protein) replaces alanine with threonine at codon 50 of the LDLR protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with familial hypercholesterolemia (PMID: 17347910, 10422804, 30293936). This variant has been identified in 21/282594 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The elevated variant allele frequency in the general population indicates that this variant may not be disease-causing. However, additional studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV002392739 | SCV002698726 | benign | Cardiovascular phenotype | 2022-08-11 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Invitae | RCV001191123 | SCV003333690 | likely benign | Familial hypercholesterolemia | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001191123 | SCV001456137 | uncertain significance | Familial hypercholesterolemia | 2020-09-16 | no assertion criteria provided | clinical testing |