Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809670 | SCV000949835 | uncertain significance | Pyridoxine-dependent epilepsy | 2018-10-08 | 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ALDH7A1-related disease. This variant is present in population databases (rs771054683, ExAC 0.001%). This sequence change replaces glutamine with histidine at codon 281 of the ALDH7A1 protein (p.Gln281His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. |