Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001208221 | SCV001379598 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2022-02-03 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs759056060, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 6 of the PRX protein (p.Arg6Trp). This variant has not been reported in the literature in individuals affected with PRX-related conditions. 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. 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: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 938919). |
| Ambry Genetics | RCV002411768 | SCV002715476 | uncertain significance | Inborn genetic diseases | 2020-08-14 | criteria provided, single submitter | clinical testing | The p.R6W variant (also known as c.16C>T), located in coding exon 1 of the PRX gene, results from a C to T substitution at nucleotide position 16. The arginine at codon 6 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |