Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644631 | SCV000766333 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001188636 | SCV001355722 | uncertain significance | Cardiomyopathy | 2023-01-10 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamic acid with lysine at codon 46 of the DSC2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 25/282612 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Gene |
RCV000996665 | SCV001790140 | uncertain significance | not provided | 2021-05-05 | criteria provided, single submitter | clinical testing | Not published in association with a cardiac phenotype to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#536266; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26768331) |
Ambry Genetics | RCV002386076 | SCV002700324 | likely benign | Cardiovascular phenotype | 2021-08-20 | 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. |