ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.449-2A>G

dbSNP: rs1600370558
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000856658 SCV001520980 likely pathogenic Developmental and epileptic encephalopathy, 52 2019-09-20 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV003509616 SCV004297295 likely pathogenic Brugada syndrome 5 2023-12-12 criteria provided, single submitter clinical testing The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5 and corresponds to NM_199037.3:c.*5017A>G in the primary transcript. This sequence change affects an acceptor splice site in intron 3 of the SCN1B gene. 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), and loss-of-function variants in SCN1B are known to be pathogenic (PMID: 17629415, 30660056). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of autosomal dominant generalized epilepsy with febrile seizures (PMID: 29655203; Invitae). This variant has been reported in individual(s) with autosomal recessive developmental and epileptic encephalopathy (PMID: 28218389); however, the role of the variant in this condition is currently unclear. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000856658 SCV004805071 uncertain significance Developmental and epileptic encephalopathy, 52 2024-03-17 criteria provided, single submitter research
OMIM RCV000856658 SCV000999199 pathogenic Developmental and epileptic encephalopathy, 52 2020-10-09 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984918 SCV001132826 uncertain significance Generalized epilepsy with febrile seizures plus, type 1 2019-01-29 no assertion criteria provided clinical testing

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