ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.449C>T (p.Ala150Val)

dbSNP: rs1131691415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493721 SCV000582083 uncertain significance not provided 2017-05-10 criteria provided, single submitter clinical testing The A150V variant in the SCN1B gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A150V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A150V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A150V as a variant of uncertain significance.
Invitae RCV003766771 SCV004632148 uncertain significance Brugada syndrome 5 2023-03-02 criteria provided, single submitter clinical testing The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.3:c.*5019C>T in the primary transcript. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 150 of the SCN1B protein (p.Ala150Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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