ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.3037C>T (p.Arg1013Ter) (rs1556886124)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639410 SCV000760983 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2017-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1035*) 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.
Baylor Genetics RCV000639410 SCV001521852 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2020-02-04 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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