Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000806138 | SCV000946120 | uncertain significance | Developmental and epileptic encephalopathy, 36 | 2018-07-04 | 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with ALG13-related disease. This sequence change replaces arginine with cysteine at codon 593 of the ALG13 protein (p.Arg593Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. |