ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.137-7T>G (rs587783784)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146405 SCV000193691 uncertain significance Severe X-linked myotubular myopathy 2013-08-29 criteria provided, single submitter clinical testing
Invitae RCV000146405 SCV001397322 uncertain significance Severe X-linked myotubular myopathy 2019-05-16 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the MTM1 gene. It does not directly change the encoded amino acid sequence of the MTM1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with myotubular myopathy (PMID: 11793470). ClinVar contains an entry for this variant (Variation ID: 158926). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 11793470). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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