ClinVar Miner

Submissions for variant NM_174934.4(SCN4B):c.607G>A (p.Val203Met)

gnomAD frequency: 0.00031  dbSNP: rs150312046
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171769 SCV000050780 likely benign not provided 2013-06-24 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV000395598 SCV000367596 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306117 SCV000367597 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082067 SCV001008150 likely benign Long QT syndrome 10 2024-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000171769 SCV001763927 uncertain significance not provided 2024-08-26 criteria provided, single submitter clinical testing Has not been previously published in association with a SCN4B-related disorder 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); This variant is associated with the following publications: (PMID: 23861362)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797657 SCV002041839 likely benign not specified 2021-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354430 SCV002657738 likely benign Cardiovascular phenotype 2018-10-16 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.
PreventionGenetics, part of Exact Sciences RCV003965229 SCV004794847 likely benign SCN4B-related disorder 2022-06-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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