Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002306880 | SCV002603971 | likely pathogenic | Severe X-linked myotubular myopathy | 2021-12-08 | criteria provided, single submitter | clinical testing | NM_000252.2(MTM1):c.730_731delCA(Q244Afs*11) is expected to be pathogenic in the context of X-linked myotubular myopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MTM1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |