Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001241071 | SCV001414061 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2022-03-29 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 493 of the PRX protein (p.Glu493Asp). This variant is present in population databases (rs367946424, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PRX-related conditions. ClinVar contains an entry for this variant (Variation ID: 966405). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Mayo Clinic Laboratories, |
RCV001507955 | SCV001713814 | uncertain significance | not provided | 2020-03-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003246797 | SCV003939908 | uncertain significance | Inborn genetic diseases | 2023-04-26 | criteria provided, single submitter | clinical testing | The c.1479G>C (p.E493D) alteration is located in exon 7 (coding exon 4) of the PRX gene. This alteration results from a G to C substitution at nucleotide position 1479, causing the glutamic acid (E) at amino acid position 493 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |