ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.2077C>G (p.Leu693Val) (rs758696889)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654144 SCV000776034 uncertain significance Charcot-Marie-Tooth disease type 4 2017-12-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 693 of the PRX protein (p.Leu693Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs758696889, ExAC 0.001%). This variant has not been reported in the literature in individuals with PRX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The valine 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. 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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