Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193301 | SCV000247152 | uncertain significance | not specified | 2014-12-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001324108 | SCV001515050 | uncertain significance | D-2-hydroxyglutaric aciduria 1 | 2020-11-06 | criteria provided, single submitter | clinical testing | 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with D-2-hydroxyglutaric aciduria (Invitae). ClinVar contains an entry for this variant (Variation ID: 210818). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 94 of the D2HGDH protein (p.Arg94Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline. |