Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069017 | SCV001234160 | pathogenic | Facioscapulohumeral muscular dystrophy 2 | 2019-12-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with SMCHD1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SMCHD1 are known to be pathogenic (PMID: 23143600). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1091Lysfs*27) in the SMCHD1 gene. It is expected to result in an absent or disrupted protein product. |