ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) (rs132630306)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000011809 SCV000193762 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000011809 SCV000818626 pathogenic Severe X-linked myotubular myopathy 2018-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg224*) in the MTM1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several male individuals affected with myotubular myopathy (PMID: 9305655, 11552027). This variant has also been reported as heterozygous in a female affected with progressive limb girdle and facial weakness (PMID: 11552027). ClinVar contains an entry for this variant (Variation ID: 11060). Loss-of-function variants in MTM1 are known to be pathogenic (PMID: 9305655, 10063835). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011809 SCV000032042 pathogenic Severe X-linked myotubular myopathy 2001-09-11 no assertion criteria provided literature only

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