Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001221821 | SCV001393884 | pathogenic | Severe X-linked myotubular myopathy | 2021-01-15 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MTM1 are known to be pathogenic (PMID: 9305655, 10063835). This variant has not been reported in the literature in individuals with MTM1-related conditions. This sequence change creates a premature translational stop signal (p.Glu172Aspfs*14) in the MTM1 gene. It is expected to result in an absent or disrupted protein product. |