ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys) (rs781933660)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636898 SCV000758342 pathogenic Severe X-linked myotubular myopathy 2017-10-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 404 of the MTM1 protein (p.Glu404Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (gnomAD no frequency). This variant has been reported in several individuals affected with X-linked myotubular myopathy or centronuclear myopathy (PMID: 9285787, 19084976, 25957634, 17005396, 12118066). This variant is also known as c.1264G>A/ p.Glu404Lys in the literature. Experimental studies have shown that this missense change impairs protein function (PMID: 12118066). For these reasons, this variant has been classified as Pathogenic.

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