ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.1936G>A (p.Glu646Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207061 SCV001378400 uncertain significance Charcot-Marie-Tooth disease type 4 2019-06-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 646 of the PRX protein (p.Glu646Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs750625856, ExAC 0.02%). This variant has been observed in combination with a different variant in the PRX gene in an individual affected with hereditary motor and sensory neuropathy (PMID: 28708278). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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