ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.359C>A (p.Ala120Asp)

dbSNP: rs549279821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812172 SCV000952476 uncertain significance Pyridoxine-dependent epilepsy 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 120 of the ALDH7A1 protein (p.Ala120Asp). This variant is present in population databases (rs549279821, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ALDH7A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 655901). 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. 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 RCV002453839 SCV002615353 uncertain significance Inborn genetic diseases 2020-01-16 criteria provided, single submitter clinical testing The p.A120D variant (also known as c.359C>A), located in coding exon 4 of the ALDH7A1 gene, results from a C to A substitution at nucleotide position 359. The alanine at codon 120 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000812172 SCV004049860 uncertain significance Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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