Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794296 | SCV000933694 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 486 of the DSC2 protein (p.Val486Met). This variant is present in population databases (rs188634770, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 641127). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 Diagnostics, |
RCV001189284 | SCV001356543 | likely benign | Cardiomyopathy | 2021-05-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307431 | SCV003990553 | likely benign | Cardiovascular phenotype | 2023-06-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 |
RCV003442074 | SCV004168765 | uncertain significance | not provided | 2023-04-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Mayo Clinic Laboratories, |
RCV003442074 | SCV004224471 | uncertain significance | not provided | 2023-04-26 | criteria provided, single submitter | clinical testing | BP4 |