ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.1468C>T (p.Arg490Trp)

gnomAD frequency: 0.00001  dbSNP: rs760423138
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045080 SCV001208910 uncertain significance Charcot-Marie-Tooth disease type 4 2022-03-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 490 of the PRX protein (p.Arg490Trp). This variant is present in population databases (rs760423138, gnomAD 0.0009%). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 842630). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173940 SCV001337059 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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