ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.136C>T (p.Arg46Cys)

dbSNP: rs371646049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529816 SCV000647851 uncertain significance Brugada syndrome 5 2023-09-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 46 of the SCN1B protein (p.Arg46Cys). This variant is present in population databases (rs371646049, gnomAD 0.0009%). This missense change has been observed in individual(s) with autosomal recessive epileptic encephalopathy and/or epileptic encephalopathy (PMID: 33901312). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 470176). 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. Experimental studies have shown that this missense change affects SCN1B function (PMID: 33901312). 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.
Eurofins Ntd Llc (ga) RCV000732892 SCV000860890 uncertain significance not provided 2018-04-12 criteria provided, single submitter clinical testing

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