ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.1406A>C (p.His469Pro) (rs587783789)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636896 SCV000758339 uncertain significance Severe X-linked myotubular myopathy 2019-03-06 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 469 of the MTM1 protein (p.His469Pro). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with X-linked myotubular myopathy (PMID: 9305655). ClinVar contains an entry for this variant (Variation ID: 530854). This variant has been reported to affect MTM1 protein function (PMID:12118066). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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