Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000992717 | SCV001145218 | uncertain significance | not provided | 2019-06-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001044679 | SCV001208486 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2022-03-20 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 211 of the PRX protein (p.Ala211Thr). This variant is present in population databases (rs112973322, gnomAD 0.04%). 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: 805249). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Gene |
RCV000992717 | SCV001989290 | uncertain significance | not provided | 2019-12-05 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Ambry Genetics | RCV003346244 | SCV004059914 | uncertain significance | Inborn genetic diseases | 2023-07-18 | criteria provided, single submitter | clinical testing | The c.631G>A (p.A211T) alteration is located in exon 7 (coding exon 4) of the PRX gene. This alteration results from a G to A substitution at nucleotide position 631, causing the alanine (A) at amino acid position 211 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |