ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) (rs200898934)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542459 SCV000657885 uncertain significance Charcot-Marie-Tooth disease type 4 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 298 of the MTMR2 protein (p.Glu298Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs200898934, ExAC 0.01%). This variant has not been reported in the literature in individuals with an MTMR2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on MTMR2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Athena Diagnostics Inc RCV000712334 SCV000842808 uncertain significance not provided 2018-04-26 criteria provided, single submitter clinical testing

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