ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter)

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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 RCV003009631 SCV003303405 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SMC1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu124*) in the SMC1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMC1A are known to be pathogenic (PMID: 26386245, 27334371, 28166369, 28548707, 31334757).

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