ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.286C>T (p.Arg96Trp)

gnomAD frequency: 0.00001  dbSNP: rs368388359
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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 RCV000548321 SCV000647855 uncertain significance Brugada syndrome 5 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 96 of the SCN1B protein (p.Arg96Trp). This variant is present in population databases (rs368388359, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 470177). 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 RCV004659101 SCV005157634 uncertain significance Cardiovascular phenotype 2024-06-11 criteria provided, single submitter clinical testing The p.R96W variant (also known as c.286C>T), located in coding exon 3 of the SCN1B gene, results from a C to T substitution at nucleotide position 286. The arginine at codon 96 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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