ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.339T>A (p.Cys113Ter)

dbSNP: rs147644722
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384319 SCV001583774 pathogenic Severe X-linked myotubular myopathy 2020-02-19 criteria provided, single submitter clinical testing Loss-of-function variants in MTM1 are known to be pathogenic (PMID: 9305655, 10063835). This sequence change creates a premature translational stop signal (p.Cys113*) in the MTM1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MTM1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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