ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+151C>A

gnomAD frequency: 0.00001  dbSNP: rs1060501167
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456901 SCV000545176 uncertain significance Brugada syndrome 5 2023-05-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 406504). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 200 of the SCN1B protein (p.Ser200Tyr). 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 tolerated. 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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