ClinVar Miner

Submissions for variant NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg)

gnomAD frequency: 0.00002  dbSNP: rs750329453
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000353970 SCV000367598 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001549670 SCV001769863 uncertain significance not provided 2024-10-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868)
Fulgent Genetics, Fulgent Genetics RCV002494949 SCV002777496 uncertain significance Long QT syndrome 10 2021-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380546 SCV004092164 likely benign Cardiovascular phenotype 2023-06-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002494949 SCV004270433 uncertain significance Long QT syndrome 10 2023-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN4B-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 302646). This variant is present in population databases (rs750329453, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 161 of the SCN4B protein (p.Thr161Arg).

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