Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000520511 | SCV000620370 | uncertain significance | not provided | 2017-08-23 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the KCNJ2 gene. The c.261 C>T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is also not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, c.261 C>T (I87=) does not alter the predicted amino acid sequence, and in silico splice prediction algorithms predict that this variant does not impact gene splicing. Additionally, no splice site variants in the KCNJ2 gene have been reported in the Human Gene Mutation Database in association with arrhythmia (Stenson et al., 2014). Nevertheless, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Furthermore, this substitution occurs at a nucleotide within exon 2 that is conserved across species. |
| Labcorp Genetics |
RCV000644785 | SCV000766499 | likely benign | Andersen Tawil syndrome; Short QT syndrome type 3 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003159684 | SCV003870352 | likely benign | Cardiovascular phenotype | 2023-03-05 | 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. |