Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812147 | SCV000952451 | pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2018-12-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SMC1A are known to be pathogenic (PMID: 26386245, 27334371, 28166369, 28548707). This variant has not been reported in the literature in individuals with SMC1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln958Profs*23) in the SMC1A gene. It is expected to result in an absent or disrupted protein product. |