ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.395A>G (p.Tyr132Cys)

gnomAD frequency: 0.00001  dbSNP: rs1265232012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001369164 SCV001565594 uncertain significance Brugada syndrome 5 2020-09-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SCN1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 132 of the SCN1B protein (p.Tyr132Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15").
Ambry Genetics RCV003169893 SCV003858658 uncertain significance Cardiovascular phenotype 2023-02-05 criteria provided, single submitter clinical testing The p.Y132C variant (also known as c.395A>G), located in coding exon 3 of the SCN1B gene, results from an A to G substitution at nucleotide position 395. The tyrosine at codon 132 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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