Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387534 | SCV001588197 | pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2020-01-28 | 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: 26358754, 26386245, 27334371). This variant has been reported to be de novo in individuals affected with early-onset epilepsy and developmental delay (PMID: 28166369). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg975*) in the SMC1A gene. It is expected to result in an absent or disrupted protein product. |