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
Invitae RCV003070253 SCV003475151 uncertain significance Brugada syndrome 5 2023-03-19 criteria provided, single submitter clinical testing 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. 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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