ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.1505T>A (p.Ile502Lys) (rs1557414802)

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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 RCV000502602 SCV000595865 uncertain significance not specified 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000809205 SCV000949348 uncertain significance Severe X-linked myotubular myopathy 2018-08-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with lysine at codon 502 of the MTM1 protein (p.Ile502Lys). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MTM1-related disease. ClinVar contains an entry for this variant (Variation ID: 435904). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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