Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002306567 | SCV002602596 | likely pathogenic | Severe X-linked myotubular myopathy | 2022-01-23 | criteria provided, single submitter | clinical testing | NM_000252.2(MTM1):c.350_351delGA(R117Kfs*18) 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. |