ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.3G>C (p.Met1Ile)

gnomAD frequency: 0.00001  dbSNP: rs2064208424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343823 SCV001537832 pathogenic Brugada syndrome 5 2023-04-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1040220). For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Disruption of the initiator codon has been observed in individuals with clinical features of autosomal dominant SCN1B-related conditions (PMID: 30660056; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the SCN1B mRNA. The next in-frame methionine is located at codon 34.
GeneDx RCV003234052 SCV003931035 uncertain significance not provided 2022-12-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Initiation codon variant 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; This variant is associated with the following publications: (PMID: 30660056)

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