ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.566_569dup (p.Lys190_Cys191insTer)

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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 RCV005204588 SCV005844834 pathogenic Severe X-linked myotubular myopathy 2025-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys191*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MTM1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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