ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049126 SCV001213160 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2019-04-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln721*) 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 been observed in an individual affected with a neurodevelopmental disorder (PMID: 27171548, 30158690). Loss-of-function variants in SMC1A are known to be pathogenic (PMID: 26386245, 27334371, 28166369, 28548707). For these reasons, this variant has been classified as Pathogenic.

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