ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter)

dbSNP: rs782234944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543470 SCV001762056 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000781954 SCV004298751 pathogenic Severe X-linked myotubular myopathy 2023-09-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 633470). This premature translational stop signal has been observed in individual(s) with centronuclear myopathy (PMID: 25957634). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln461*) 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).
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000781954 SCV000920399 pathogenic Severe X-linked myotubular myopathy 2007-08-02 no assertion criteria provided clinical testing

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