ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.15C>G (p.Ser5Arg) (rs1408677034)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685752 SCV000813249 uncertain significance Charcot-Marie-Tooth disease type 4 2018-05-08 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 5 of the PRX protein (p.Ser5Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRX-related disease. 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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