Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690210 | SCV000817889 | uncertain significance | Pyridoxine-dependent epilepsy | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 40 of the ALDH7A1 protein (p.Ala40Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with pyridoxine-dependent epilepsy (PMID: 30043187). ClinVar contains an entry for this variant (Variation ID: 569552). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ALDH7A1 protein function. 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. |
Ambry Genetics | RCV002343454 | SCV002647267 | uncertain significance | Inborn genetic diseases | 2017-06-30 | criteria provided, single submitter | clinical testing | The p.A40G variant (also known as c.119C>G), located in coding exon 1 of the ALDH7A1 gene, results from a C to G substitution at nucleotide position 119. The alanine at codon 40 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome- |
RCV000690210 | SCV004050387 | uncertain significance | Pyridoxine-dependent epilepsy | 2023-04-11 | criteria provided, single submitter | clinical testing |