Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000654109 | SCV000775999 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-11-19 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with aspartic acid at codon 367 of the PRX protein (p.Ala367Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs143400291, ExAC 0.009%). This variant has not been reported in the literature in individuals with PRX-related conditions. ClinVar contains an entry for this variant (Variation ID: 543361). 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. |
Athena Diagnostics Inc | RCV001288689 | SCV001475997 | uncertain significance | not provided | 2020-02-20 | criteria provided, single submitter | clinical testing |