Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230342 | SCV001402817 | uncertain significance | Pyridoxine-dependent epilepsy | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with phenylalanine at codon 382 of the ALDH7A1 protein (p.Leu382Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ALDH7A1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Ce |
RCV001532517 | SCV001748119 | uncertain significance | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001230342 | SCV004050713 | uncertain significance | Pyridoxine-dependent epilepsy | 2023-04-11 | criteria provided, single submitter | clinical testing |