ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.557C>T (p.Thr186Ile)

dbSNP: rs587783836
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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 RCV000146461 SCV000193748 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV003226903 SCV003923698 likely pathogenic not provided 2022-11-07 criteria provided, single submitter clinical testing Identified in a patient with a myotubular myopathy confirmed by biopsy in the published literature, however zygosity of the variant was not provided (Herman et al., 2002); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11793470, 30047259, 31324802, 26338224)

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