Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151802 | SCV000200265 | uncertain significance | not specified | 2019-02-07 | criteria provided, single submitter | clinical testing | The 998+5G>A variant in SCN5A has not been reported in individuals with cardiomyopathy, but it has been identified in 1/8366 of European American chromosomes by the NHLBI Exome Sequencing Project and in 0.5% (1/186) of Finnish chromosomes by the 1000 Genomes Project (http://evs.gs.washington.edu/EVS/;dbSNP rs187531872). This variant is located in the 5' splice region. Computational tools suggest a possible impact to splicing. However, this information is not predictive enough to determine pathogenicity. Additional information is needed to fully assess the clinical significance of the 998+5G>A variant. 998+5G>A intron 8 of SCN5A (rs187531872; allele frequency = 1/8366). This variant has been seen by several clinical labs in ClinVar (uncertain significance), and affects splice in silico. This variant has been reported in an individual affected with long QT syndrome (PMID: 23631430). |
Blueprint Genetics | RCV000157496 | SCV000207241 | uncertain significance | Arrhythmogenic right ventricular cardiomyopathy | 2015-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000252811 | SCV000320385 | likely benign | Cardiovascular phenotype | 2021-07-14 | 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. |
Labcorp Genetics |
RCV003764926 | SCV000760233 | likely benign | not provided | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Klaassen Lab, |
RCV000853149 | SCV000995862 | uncertain significance | Primary dilated cardiomyopathy | 2019-07-03 | criteria provided, single submitter | research | |
Color Diagnostics, |
RCV001842475 | SCV001356063 | likely benign | Cardiac arrhythmia | 2023-03-15 | criteria provided, single submitter | clinical testing |