ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.350G>A (p.Gly117Asp)

gnomAD frequency: 0.00001  dbSNP: rs1313744180
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689139 SCV000816779 uncertain significance Brugada syndrome 5 2023-10-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 117 of the SCN1B protein (p.Gly117Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with epilepsy with febrile seizures+ (PMID: 28726809). ClinVar contains an entry for this variant (Variation ID: 568700). 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.

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