ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.374G>T (p.Arg125Leu)

dbSNP: rs759839781
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001367109 SCV001563446 uncertain significance Brugada syndrome 5 2023-11-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 125 of the SCN1B protein (p.Arg125Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with generalized epilepsy with febrile seizures, plus (PMID: 21040232). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1058022). 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.
AiLife Diagnostics, AiLife Diagnostics RCV002223307 SCV002501039 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing
GeneDx RCV002223307 SCV004030980 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing Previously reported in a family with febrile seizures (Kamoun Feki et al., 2019; Fendri-Kriaa et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Mohamed_2015_Review, Pasquetti_2021_Review, Wang_2016_Review, Medeiros-Domingo_2014_Review, 21040232, 30921204, 34583279, 36374051, 36291443, 31729702)

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