ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.591-2A>G

dbSNP: rs2151749034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001950492 SCV002225992 uncertain significance Brugada syndrome 5 2021-09-07 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 of the SCN1B gene. The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.4, and corresponds to NM_199037.3:c.*5535A>G in the primary transcript. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SCN1B cause disease. 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. Disruption of this splice site has been observed in individual(s) with clinical features of autosomal recessive SCN1B-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency).

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