ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.431del (p.Leu144fs) (rs587783826)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146451 SCV000193738 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000146451 SCV000758340 pathogenic Severe X-linked myotubular myopathy 2017-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu144Argfs*11) 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 identified in individuals affected with X-linked myotubular myopathy (PMID: 20500434). ClinVar contains an entry for this variant (Variation ID: 158972). Loss-of-function variants in MTM1 are known to be pathogenic (PMID: 9305655, 10063835). For these reasons, this variant has been classified as Pathogenic.

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