Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001318100 | SCV001508788 | uncertain significance | Brugada syndrome | 2022-04-01 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1018754). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. This variant is present in population databases (rs774186159, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Met1641Ilefs*38) in the SCN10A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 316 amino acid(s) of the SCN10A protein. |
| Ambry Genetics | RCV002341649 | SCV002642076 | likely benign | Cardiovascular phenotype | 2022-10-06 | 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. |