ClinVar Miner

Submissions for variant NM_001040151.2(SCN3B):c.92C>T (p.Ser31Leu)

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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 RCV002943950 SCV003278304 uncertain significance Brugada syndrome 7 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 31 of the SCN3B protein (p.Ser31Leu). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SCN3B-related conditions. ClinVar contains an entry for this variant (Variation ID: 2067333). 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.
Ambry Genetics RCV004983224 SCV005500086 uncertain significance Cardiovascular phenotype 2024-12-08 criteria provided, single submitter clinical testing The p.S31L variant (also known as c.92C>T), located in coding exon 2 of the SCN3B gene, results from a C to T substitution at nucleotide position 92. The serine at codon 31 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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