ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5372A>T (p.Asp1791Val)

dbSNP: rs774917987
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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 RCV003540834 SCV000835153 uncertain significance not provided 2023-05-01 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. 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. ClinVar contains an entry for this variant (Variation ID: 582128). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. This variant is present in population databases (rs774917987, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1792 of the SCN5A protein (p.Asp1792Val).
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224380 SCV003920438 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 2021-03-30 criteria provided, single submitter clinical testing SCN5A NM_000335 exon 28 p.Asp1791Val (c.5372A>T): This variant has not been reported in the literature but is present in 1/15296 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs774917987). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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