ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.2173C>T (p.Pro725Ser)

gnomAD frequency: 0.00001  dbSNP: rs1387072587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173941 SCV001337060 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003744737 SCV004550347 uncertain significance Charcot-Marie-Tooth disease type 4 2022-12-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 725 of the PRX protein (p.Pro725Ser). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRX protein function. ClinVar contains an entry for this variant (Variation ID: 917237). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 32376792). This variant is present in population databases (no rsID available, gnomAD 0.002%).

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