ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2314-2A>T

dbSNP: rs1602409271
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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 RCV002000326 SCV002257731 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2021-04-24 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This sequence change affects an acceptor splice site in intron 14 of the SMC1A 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 SMC1A are known to be pathogenic (PMID: 26386245, 27334371, 28166369, 28548707, 31334757). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMC1A-related conditions. 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.

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