ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)

gnomAD frequency: 0.00001  dbSNP: rs1167411868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173075 SCV001336150 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509036 SCV001715534 uncertain significance not provided 2021-02-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002557484 SCV003254912 uncertain significance Charcot-Marie-Tooth disease type 4 2021-12-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 916920). This variant has not been reported in the literature in individuals affected with PRX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 497 of the PRX protein (p.Pro497Leu). 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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