Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003656210 | SCV001204170 | uncertain significance | not provided | 2023-05-29 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 838933). This variant is present in population databases (rs753953732, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 37 of the SCN5A protein (p.Thr37Ala). |
Color Diagnostics, |
RCV001842588 | SCV001340549 | likely benign | Cardiac arrhythmia | 2018-11-11 | criteria provided, single submitter | clinical testing |