Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231571 | SCV001404099 | pathogenic | Facioscapulohumeral muscular dystrophy 2 | 2022-10-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 958410). This variant has not been reported in the literature in individuals affected with SMCHD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro1145Leufs*7) in the SMCHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMCHD1 are known to be pathogenic (PMID: 23143600). |