ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5365G>A (p.Asp1789Asn)

gnomAD frequency: 0.00001  dbSNP: rs772508476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003768971 SCV001230788 likely pathogenic not provided 2024-09-16 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 autosomal dominant SCN5A-related conditions (PMID: 23200271, 30193851; internal data). 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. 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, 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

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