ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.640G>A (p.Val214Ile)

gnomAD frequency: 0.00001  dbSNP: rs77106213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003229815 SCV000223597 uncertain significance not provided 2023-05-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32439998)
Ambry Genetics RCV002316984 SCV000850957 likely benign Cardiovascular phenotype 2022-10-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001852052 SCV002316672 uncertain significance Brugada syndrome 5 2023-08-28 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. The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.3:c.*5586G>A in the primary transcript. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 214 of the SCN1B protein (p.Val214Ile). This variant is present in population databases (rs77106213, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions.

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