Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003122266 | SCV003788875 | likely pathogenic | Severe X-linked myotubular myopathy | 2022-10-18 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 10 of the MTM1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with X-linked myotubular myopathy (PMID: 10502779, 12522554). This variant is also known as 290del62. This variant disrupts a region of the MTM1 protein in which other variant(s) (p.Trp346Cys) have been observed in individuals with MTM1-related conditions (PMID: 12522554). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |