Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146392 | SCV000193678 | pathogenic | Severe X-linked myotubular myopathy | 2013-02-08 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000724986 | SCV000332988 | pathogenic | not provided | 2017-05-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000146392 | SCV001210550 | pathogenic | Severe X-linked myotubular myopathy | 2019-12-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg421*) in the MTM1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of MTM1-related conditions (PMID: 9285787, 9829274, 10063835, 11793470, 24381816). This variant is also known as C1315T or 1315C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 158913). Loss-of-function variants in MTM1 are known to be pathogenic (PMID: 9305655, 10063835). For these reasons, this variant has been classified as Pathogenic. |
Clinical Molecular Genetics Laboratory, |
RCV000146392 | SCV000920402 | pathogenic | Severe X-linked myotubular myopathy | 2007-07-02 | no assertion criteria provided | clinical testing |