ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.533T>C (p.Leu178Ser)

dbSNP: rs2148488364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001358686 SCV001554495 likely pathogenic Severe X-linked myotubular myopathy criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282529 SCV002572219 uncertain significance not specified 2022-08-22 criteria provided, single submitter clinical testing Variant summary: MTM1 c.533T>C (p.Leu178Ser) results in a non-conservative amino acid change located in the Myotubularin-like, phosphatase domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 182364 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.533T>C has been reported in the literature in one individual affected with neonatal hypotonia. This report does not provide unequivocal conclusions about association of the variant with Severe X-Linked Myotubular Myopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV003490219 SCV004236404 uncertain significance not provided 2019-12-15 criteria provided, single submitter clinical testing

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