ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.479A>C (p.Asn160Thr)

gnomAD frequency: 0.00001  dbSNP: rs1286568485
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224954 SCV001397184 uncertain significance Charcot-Marie-Tooth disease type 4 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 160 of the MTMR2 protein (p.Asn160Thr). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MTMR2-related conditions. 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. 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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