ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.109C>T (p.Arg37Ter) (rs587783753)

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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 RCV000146374 SCV000193658 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000579109 SCV000680686 pathogenic not provided 2017-11-02 criteria provided, single submitter clinical testing The R37X variant in the MTM1 gene has been reported previously in multiple patients with X-linked myotubular myopathy (Laporte et al., 1997; Buj-Bello et al., 1999; Herman et al., 2002). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R37X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R37X as a pathogenic variant.

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