ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1192G>A (p.Gly398Arg)

dbSNP: rs1347421419
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001379230 SCV001576991 pathogenic Pyridoxine-dependent epilepsy 2025-01-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 398 of the ALDH7A1 protein (p.Gly398Arg). 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: 22529283). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1067854). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ALDH7A1 protein function with a positive predictive value of 95%. This variant disrupts the p.Gly398 amino acid residue in ALDH7A1. Other variant(s) that disrupt this residue have been observed in individuals with ALDH7A1-related conditions (internal data), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.