ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) (rs886048770)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000654090 SCV000374984 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000654090 SCV000775980 uncertain significance Charcot-Marie-Tooth disease type 4 2017-10-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 615 of the MTMR2 protein (p.Gln615Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MTMR2-related disease. ClinVar contains an entry for this variant (Variation ID: 306534). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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