Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000819773 | SCV000960453 | uncertain significance | Long QT syndrome | 2022-06-04 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3039 of the ANK2 protein (p.Asp3039Gly). This variant is present in population databases (rs140539843, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 662181). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Center for Advanced Laboratory Medicine, |
RCV000852555 | SCV000995255 | uncertain significance | Sudden cardiac arrest | 2019-03-15 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001784450 | SCV002025701 | uncertain significance | See cases | 2020-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372334 | SCV002684766 | likely benign | Cardiovascular phenotype | 2024-01-04 | 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. |