Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054727 | SCV001219076 | uncertain significance | Pyridoxine-dependent epilepsy | 2019-02-18 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with phenylalanine at codon 224 of the ALDH7A1 protein (p.Ser224Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. 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 C15"). This variant has not been reported in the literature in individuals with ALDH7A1-related conditions. This variant is not present in population databases (ExAC no frequency). |