ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.226G>T (p.Glu76Ter) (rs1057516031)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000408634 SCV000484419 pathogenic Severe X-linked myotubular myopathy 2015-08-03 criteria provided, single submitter clinical testing This patient is hemizygous for a single base substitution that results in a premature stop codon at position 76, resulting in a truncated protein and likely non-sense mediated decay. This is a novel mutation that had not been previously reported in the literature not population or disease databases. Hemizygous loss of function mutations in MTM1 have been associated with an X-linked myotubular myopathy (OMIM 310400). No alternative splicing has been observed at this position in RefSeq transcripts. Multiple truncating MTM1 variants observed downstream of the one here described have previously been classified as pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.