ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.867+1G>A (rs587783858)

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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 RCV000146485 SCV000193775 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000146485 SCV000634496 pathogenic Severe X-linked myotubular myopathy 2017-03-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 of the MTM1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (rs587783858, ExAC no frequency). This variant was reported in an individual affected with centronuclear myopathy (PMID: 22968135) Different variants affecting this nucleotide (c.867+1G>T and c.867+1G>C) have been determined to be pathogenic (PMID: 22101172, 9851444). This suggests that this nucleotide is important for RNA splicing, and that other variants at this position may also be pathogenic. For these reasons, this variant has been classified as Pathogenic.

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