ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.655T>C (p.Ter219Gln)

dbSNP: rs2151749083
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993594 SCV002249602 uncertain significance Brugada syndrome 5 2022-12-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. 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: 1468183). This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the SCN1B mRNA. It is expected to extend the length of the SCN1B protein by 214 additional amino acid residues. The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5 and corresponds to NM_199037.3:c.*5601T>C in the primary transcript.

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