ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.114del (p.Pro39fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003619150 SCV004565302 likely pathogenic Severe X-linked myotubular myopathy 2023-08-09 criteria provided, single submitter clinical testing The MTM1 c.114del; p.Pro39GlnfsTer5 variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003619150 SCV005843717 pathogenic Severe X-linked myotubular myopathy 2025-01-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro39Glnfs*5) 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 variant has not been reported in the literature in individuals affected with MTM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2920995). For these reasons, this variant has been classified as Pathogenic.

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