ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.289G>A (p.Gly97Ser)

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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 RCV003070253 SCV003475151 uncertain significance Brugada syndrome 5 2023-03-19 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 2162459). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 97 of the SCN1B protein (p.Gly97Ser).
PreventionGenetics, part of Exact Sciences RCV004536598 SCV004119449 uncertain significance SCN1B-related disorder 2022-10-07 criteria provided, single submitter clinical testing The SCN1B c.289G>A variant is predicted to result in the amino acid substitution p.Gly97Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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