ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.63+1G>T

dbSNP: rs587783843
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001733828 SCV001984816 pathogenic Severe X-linked myotubular myopathy 2020-08-12 criteria provided, single submitter clinical testing This variant affects the canonical splice donor site of intron 2 and is therefore predicted to interfere with splicing and result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. However, other variants at this donor splice site, c.63+1G>A and c.63+1G>C, have been previously reported in patients with X-linked Myotubular Myopathy (PMID: 10790201, 23346162). It is absent from the gnomAD population database and thus is presumed to be rare. Based on the available evidence, the c.63+1G>T variant is classified as Pathogenic.

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