ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)

dbSNP: rs797045713
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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 RCV000193932 SCV000248082 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000193932 SCV001984796 pathogenic Severe X-linked myotubular myopathy 2020-09-18 criteria provided, single submitter clinical testing This variant has been previously reported as a hemizygous change in a patient with X-linked myotubular myopathy (PMID: 17537630). It is absent from the gnomAD population database and thus is presumed to be rare. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.1306_1308del (p.Pro436del) variant is classified as Pathogenic.

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