ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.621C>T (p.Ser207=)

gnomAD frequency: 0.00001  dbSNP: rs1378669075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731232 SCV000859021 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Invitae RCV003621567 SCV004554426 uncertain significance Brugada syndrome 5 2023-09-06 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.*5567C>T in the primary transcript. 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 effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change affects codon 207 of the SCN1B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN1B protein.

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