ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.142G>T (p.Glu48Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004730191 SCV005338078 pathogenic MTM1-related disorder 2024-04-12 no assertion criteria provided clinical testing The MTM1 c.142G>T variant is predicted to result in premature protein termination (p.Glu48*). This variant has been reported as maternally inherited in an individual with myotubular myopathy (Tanner et al. 1999. PubMed ID: 10063835). This variant is reported in 0.0012% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in MTM1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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