ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2437C>T (p.Gln813Ter)

dbSNP: rs2146595540
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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 RCV002042319 SCV002111376 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2022-07-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SMC1A-related conditions. This sequence change creates a premature translational stop signal (p.Gln813*) 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). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1351039). For these reasons, this variant has been classified as Pathogenic.

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