ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.757C>T (p.Arg253Ter) (rs587783854)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000146481 SCV000920408 pathogenic Severe X-linked myotubular myopathy 2010-01-20 no assertion criteria provided clinical testing
GeneDx RCV000578589 SCV000680687 pathogenic not provided 2018-09-17 criteria provided, single submitter clinical testing The R253X variant in the MTM1 gene has been reported previously multiple times as a hemizygous variant in males with features consistent with severe myotubular myopathy (Flex et al., 2002; Biancalana et al., 2003; Longo et al., 2016; Savarese et al., 2016). The R253X variant was also reported in heterozygous state in a study looking at manifesting carriers in a single family with three females with mild muscle disease as well as multiple asymptomatic female relatives; however, X-inactivation studies did not demonstrate skewed X-inactivation in the symptomatic female carriers in this family (Grogan et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R253X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R253X as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000146481 SCV000193771 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing

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