ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.1552G>A (p.Gly518Arg) (rs1014132718)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654062 SCV000775952 uncertain significance Charcot-Marie-Tooth disease type 4 2017-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 518 of the MTMR2 protein (p.Gly518Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from likely pathogenic variant in an individual affected with neuropathy (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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