ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)

dbSNP: rs587783839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146464 SCV000193752 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000146464 SCV004196469 pathogenic Severe X-linked myotubular myopathy 2023-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000146464 SCV004298749 pathogenic Severe X-linked myotubular myopathy 2023-07-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 158985). This variant is also known as ∆643–646 ACTT. This premature translational stop signal has been observed in individual(s) with X-linked myotubular myopathy (PMID: 9285787). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr198Leufs*51) 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).

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