ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.404T>C (p.Val135Ala)

dbSNP: rs1864439728
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044445 SCV001208243 uncertain significance Charcot-Marie-Tooth disease type 4 2021-03-05 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with MTMR2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 135 of the MTMR2 protein (p.Val135Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine.

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