ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.624del (p.Ser209fs)

dbSNP: rs2039846270
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056079 SCV001220498 pathogenic Severe X-linked myotubular myopathy 2021-08-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser209Glnfs*41) 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 has not been reported in the literature in individuals affected with MTM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 851646). For these reasons, this variant has been classified as Pathogenic.

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