ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.969dup (p.Val324fs) (rs587783865)

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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 RCV000193112 SCV000248093 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000193112 SCV001220310 pathogenic Severe X-linked myotubular myopathy 2019-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val324Serfs*8) 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 observed in individual(s) with X-linked myotubular myopathy (PMID: 10790201). This variant is also known as c.969-970insA in the literature. ClinVar contains an entry for this variant (Variation ID: 211539). Loss-of-function variants in MTM1 are known to be pathogenic (PMID: 9305655, 10063835). For these reasons, this variant has been classified as Pathogenic.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000193112 SCV000920411 pathogenic Severe X-linked myotubular myopathy 2012-08-16 no assertion criteria provided clinical testing

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