ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)

dbSNP: rs398123275
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790686 SCV000331268 pathogenic not provided 2013-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000264401 SCV000818558 pathogenic Severe X-linked myotubular myopathy 2022-06-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individuals with X-linked myotubular myopathy (PMID: 9305655, 20358311). This variant is also known as c.124C>T. ClinVar contains an entry for this variant (Variation ID: 92678). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg24*) 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).
Genetic Services Laboratory, University of Chicago RCV000790686 SCV002069150 pathogenic not provided 2018-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000790686 SCV005201744 pathogenic not provided 2023-12-17 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: 25525159, 34011573, 29687370, 9305655, 15725586, 12522554, 10790201, 20358311)

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