ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.49G>T (p.Glu17Ter)

dbSNP: rs886039522
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
GeneDx RCV000254935 SCV000322249 pathogenic not provided 2016-02-18 criteria provided, single submitter clinical testing The E17X pathogenic variant in the MTM1 gene has been reported previously in association with myotubular myopathy (Laporte et al., 1997; Biancalana et al., 2003). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E17X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret E17X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV005090298 SCV005842375 pathogenic Severe X-linked myotubular myopathy 2024-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu17*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with X-linked myotubular myopathy (PMID: 9305655). ClinVar contains an entry for this variant (Variation ID: 265397). For these reasons, this variant has 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.