ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+201C>T

dbSNP: rs2151746638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772765 SCV001993392 uncertain significance not provided 2019-09-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV001799531 SCV002043768 likely pathogenic Brugada syndrome 5; Atrial fibrillation, familial, 13 2021-10-30 criteria provided, single submitter clinical testing The c.649C>T variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is not present in Indian Exome Database and in our in-house exome database. The variant was not earlier reported to ClinVar, Human Genome Mutation Database (HGMD) and OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome etc. predicted this variant to be likely deleterious, however these predictions have not been confirmed by published functional studies.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861117 SCV002279291 uncertain significance Brugada syndrome 5 2023-01-29 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1307910). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln217*) in the SCN1B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 52 amino acid(s) of the SCN1B protein.

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