Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003122263 | SCV003788873 | pathogenic | Severe X-linked myotubular myopathy | 2022-10-04 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the MTM1 gene has been identified. Loss-of-function variants in MTM1 are known to be pathogenic (PMID: 9305655, 10063835). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individuals with myotubular myopathy (PMID: 9305655, 10449925, 15725586, 20434914). For these reasons, this variant has been classified as Pathogenic. |
| Labcorp Genetics |
RCV003122264 | SCV003790883 | uncertain significance | X-linked myopathy with excessive autophagy | 2022-10-04 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the VMA21 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in VMA21 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with VMA21-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |