ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1299del (p.Lys433fs)

dbSNP: rs1602411858
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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 RCV000799059 SCV000938706 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2018-08-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys433Asnfs*17) in the SMC1A gene. It is expected to result in an absent or disrupted protein product. 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 disease. Loss-of-function variants in SMC1A are known to be pathogenic (PMID: 26358754, 26386245, 27334371). For these reasons, this variant has been classified as Pathogenic.

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