Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690452 | SCV000818137 | uncertain significance | Charcot-Marie-Tooth disease, type 4A | 2018-11-08 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with aspartic acid at codon 326 of the GDAP1 protein (p.Val326Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GDAP1-related disease. ClinVar contains an entry for this variant (Variation ID: 569746). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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. |
Athena Diagnostics Inc | RCV000711792 | SCV000842189 | uncertain significance | not provided | 2018-07-30 | criteria provided, single submitter | clinical testing |