ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) (rs142460913)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516211 SCV000614128 uncertain significance not specified 2016-10-27 criteria provided, single submitter clinical testing
Invitae RCV000228469 SCV000290179 uncertain significance Charcot-Marie-Tooth disease type 4 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 468 of the MTMR2 protein (p.Asp468His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs142460913, ExAC 0.006%). This variant has not been reported in the literature in individuals with an MTMR2-related disease. ClinVar contains an entry for this variant (Variation ID: 241075). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.

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