ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)

gnomAD frequency: 0.00001  dbSNP: rs587783753
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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 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000146374 SCV002180146 pathogenic Severe X-linked myotubular myopathy 2023-07-13 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with myotubular myopathy (PMID: 9305655, 28685322). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg37*) in the MTM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTM1 are known to be pathogenic (PMID: 9305655, 10063835). ClinVar contains an entry for this variant (Variation ID: 158895). For these reasons, this variant has been classified as Pathogenic.

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