ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.239T>G (p.Val80Gly)

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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 RCV003632771 SCV004540556 pathogenic Pyridoxine-dependent epilepsy 2023-01-20 criteria provided, single submitter clinical testing 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. This missense change has been observed in individual(s) with pyridoxine-dependent epilepsy (PMID: 29547829). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 80 of the ALDH7A1 protein (p.Val80Gly).

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