ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.1261-10A>G (rs397518445)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000011807 SCV000193676 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000255138 SCV000322252 pathogenic not provided 2017-08-22 criteria provided, single submitter clinical testing The c.1261-10 A>G variant has been reported in multiple male individuals with myotubular myopathy who also had supportive histological findings on muscle biopsy (as IVS12-10 A>G using alternate nomenclature in de Gouyon et al., 1997; Bijarnia et al., 2010; MTM1 LOVD). The c.1261-10 A>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Studies have shown this variant may create a new acceptor splice site by adding three additional amino acids to the protein (de Gouyon et al., 1997). We interpret c.1261-10 A>G as a pathogenic variant.
Institute of Human Genetics,Klinikum rechts der Isar RCV000011807 SCV000680295 pathogenic Severe X-linked myotubular myopathy 2017-12-13 criteria provided, single submitter clinical testing
OMIM RCV000011807 SCV000032040 pathogenic Severe X-linked myotubular myopathy 2000-01-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000011807 SCV000920409 pathogenic Severe X-linked myotubular myopathy 2010-01-29 no assertion criteria provided clinical testing

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