ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.113C>T (p.Thr38Ile)

dbSNP: rs2062566716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003656465 SCV001376567 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 936508). 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 38 of the SCN5A protein (p.Thr38Ile).
Ambry Genetics RCV002451432 SCV002614545 uncertain significance Cardiovascular phenotype 2022-06-06 criteria provided, single submitter clinical testing The p.T38I variant (also known as c.113C>T), located in coding exon 1 of the SCN5A gene, results from a C to T substitution at nucleotide position 113. The threonine at codon 38 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV003591847 SCV004362254 uncertain significance Cardiac arrhythmia 2022-10-11 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 38 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 cardiovascular disorders in the literature. This variant has not been identified 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.

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