ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)

dbSNP: rs587783792
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146414 SCV000193700 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000523062 SCV000617413 pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 9305655, 34366366, 11793470, 12522554, 18358876, 25525159, 33333461, 31069529)
Labcorp Genetics (formerly Invitae), Labcorp RCV000146414 SCV000634488 pathogenic Severe X-linked myotubular myopathy 2023-03-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 158935). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg474*) 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 premature translational stop signal has been observed in individuals with myotubular myopathy (PMID: 9305655, 11793470, 18358876, 25957634).
Revvity Omics, Revvity RCV000523062 SCV004236958 pathogenic not provided 2019-04-12 criteria provided, single submitter clinical testing

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