Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001953327 | SCV002218421 | uncertain significance | 2-aminoadipic 2-oxoadipic aciduria | 2021-06-21 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DHTKD1-related conditions. This sequence change replaces glutamine with arginine at codon 673 of the DHTKD1 protein (p.Gln673Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. |