ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) (rs132630305)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725013 SCV000333201 pathogenic not provided 2015-07-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000011808 SCV000193769 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000011808 SCV000634494 pathogenic Severe X-linked myotubular myopathy 2017-05-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 241 of the MTM1 protein (p.Arg241Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals affected with X-linked myotubular myopathy (PMID: 9305655, 10502779, 10790201, 11793470, 12522554, 10215413) and is reported to be one of the most common causes of this disease (PMID: 18817572, 10790201). Multiple experimental studies have shown that this variant disrupts the interaction between the MTM1 protein and other intermediate filament proteins such as neurofilament light protein (PMID: 17973976) and desmin (PMID: 21135508). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011808 SCV000032041 pathogenic Severe X-linked myotubular myopathy 2000-01-01 no assertion criteria provided literature only

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