ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2314-7_2314-3del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379710 SCV001577559 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2020-10-20 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the SMC1A gene. It does not directly change the encoded amino acid sequence of the SMC1A protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of SMC1A-related conditions (Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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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