ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1234A>G (p.Ile412Val)

dbSNP: rs587783765
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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 RCV000146386 SCV000193670 likely pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV003322752 SCV004028391 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Reported heterozygous in female with centronuclear myopathy, however limited genes were evaluated and no X-inactivation studies were performed (Bevilacqua et al., 2009); This variant is associated with the following publications: (PMID: 24451234, 26995067, 30149909, 27017278, 19084976)

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