Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003768971 | SCV001230788 | uncertain significance | not provided | 2023-07-25 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1790 of the SCN5A protein (p.Asp1790Asn). This variant is present in population databases (rs772508476, gnomAD 0.003%). This missense change has been observed in individuals with clinical features of SCN5A-related conditions (PMID: 23200271, 30193851; Invitae). ClinVar contains an entry for this variant (Variation ID: 859644). 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 disruptive. 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. This variant disrupts the p.Asp1790 amino acid residue in SCN5A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9686753, 11150514, 20102920, 26304620). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. |
| Fulgent Genetics, |
RCV002505644 | SCV002816747 | uncertain significance | Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 | 2021-09-20 | criteria provided, single submitter | clinical testing |