ClinVar Miner

Submissions for variant NM_001040151.2(SCN3B):c.106G>A (p.Val36Met)

gnomAD frequency: 0.00004  dbSNP: rs147803210
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001885810 SCV002143366 uncertain significance Brugada syndrome 7 2024-12-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 36 of the SCN3B protein (p.Val36Met). This variant is present in population databases (rs147803210, gnomAD 0.02%). This missense change has been observed in individual(s) with sudden unexplained death (PMID: 20226894). ClinVar contains an entry for this variant (Variation ID: 1376285). 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 SCN3B function (PMID: 20226894). 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.
Fulgent Genetics, Fulgent Genetics RCV001885810 SCV002775680 uncertain significance Brugada syndrome 7 2021-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164240 SCV003858664 likely benign Cardiovascular phenotype 2023-03-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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