ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter)

dbSNP: rs587783795
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146417 SCV000193703 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000146417 SCV001392378 pathogenic Severe X-linked myotubular myopathy 2022-02-10 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with myotubular myopathy (PMID: 10063835, 11793470, 12522554). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 158938). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg486*) in the MTM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTM1 are known to be pathogenic (PMID: 9305655, 10063835).

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.