ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.549G>A (p.Lys183=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002351598 SCV002650143 likely benign Cardiovascular phenotype 2021-07-21 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 RCV003096770 SCV003323715 uncertain significance Brugada syndrome 5 2022-04-25 criteria provided, single submitter clinical testing The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.4, and corresponds to NM_199037.3:c.*5119G>A in the primary transcript. This sequence change affects codon 183 of the SCN1B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN1B protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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.
GeneDx RCV004774666 SCV005383844 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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