ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.3365A>G (p.Gln1122Arg)

dbSNP: rs1287415463
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239208 SCV001412061 uncertain significance Charcot-Marie-Tooth disease type 4 2020-02-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PRX-related conditions. This sequence change replaces glutamine with arginine at codon 1122 of the PRX protein (p.Gln1122Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine.

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