Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000170711 | SCV000223264 | uncertain significance | not provided | 2021-12-23 | criteria provided, single submitter | clinical testing | Reported in a patient with sudden unexplained death (Lin et al., 2017); however, specific clinical information was not provided; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 190579); This variant is associated with the following publications: (PMID: 29247119) |
Labcorp Genetics |
RCV001224090 | SCV001396268 | uncertain significance | Long QT syndrome | 2022-08-22 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 190579). This missense change has been observed in individual(s) with sudden unexplained death (PMID: 29247119). This variant is present in population databases (rs372212045, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 3744 of the ANK2 protein (p.Thr3744Pro). |
Ambry Genetics | RCV002433733 | SCV002751157 | benign | Cardiovascular phenotype | 2021-10-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Fulgent Genetics, |
RCV002485060 | SCV002786028 | uncertain significance | Cardiac arrhythmia, ankyrin-B-related | 2021-09-13 | criteria provided, single submitter | clinical testing |