ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5948C>T (p.Thr1983Ile)

gnomAD frequency: 0.00003  dbSNP: rs778230530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003541347 SCV001513707 uncertain significance not provided 2022-06-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs778230530, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1022855). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1984 of the SCN5A protein (p.Thr1984Ile).
Color Diagnostics, LLC DBA Color Health RCV001841209 SCV002052963 uncertain significance Cardiac arrhythmia 2023-05-17 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 1984 of the SCN5A protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SCN5A-related disorders in the literature. This variant has been identified in 6/232638 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
GenomeConnect - Invitae Patient Insights Network RCV001535565 SCV001749548 not provided Brugada syndrome 1; Long QT syndrome 3 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-18-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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