ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.1132G>A (p.Gly378Arg) (rs587783755)

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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 RCV000146376 SCV000193660 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000146376 SCV001404208 pathogenic Severe X-linked myotubular myopathy 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 378 of the MTM1 protein (p.Gly378Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with myotubular myopathy (PMID: 8640223, 12031625, 10714588, 28685322). In at least one individual the variant was observed to be de novo. This variant is also known as G1186A, G396R in the literature. ClinVar contains an entry for this variant (Variation ID: 158897). This variant has been reported to affect MTM1 protein function (PMID: 10900271, 12118066). For these reasons, this variant has been classified as Pathogenic.

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