ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1196G>T (p.Gly399Val)

dbSNP: rs1750101998
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052728 SCV001216952 pathogenic Pyridoxine-dependent epilepsy 2022-03-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 399 of the ALDH7A1 protein (p.Gly399Val). For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt ALDH7A1 protein function. ClinVar contains an entry for this variant (Variation ID: 848879). This missense change has been observed in individual(s) with clinical features of pyridoxine-dependent epilepsy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).

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