ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.781A>G (p.Met261Val)

gnomAD frequency: 0.00010  dbSNP: rs767172222
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811899 SCV000952189 uncertain significance Pyridoxine-dependent epilepsy 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 261 of the ALDH7A1 protein (p.Met261Val). This variant is present in population databases (rs767172222, gnomAD 0.004%). 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: 655666). 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 RCV002406830 SCV002673340 uncertain significance Inborn genetic diseases 2018-04-11 criteria provided, single submitter clinical testing The p.M261V variant (also known as c.781A>G), located in coding exon 9 of the ALDH7A1 gene, results from an A to G substitution at nucleotide position 781. The methionine at codon 261 is replaced by valine, an amino acid with highly similar 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.
GeneDx RCV003317380 SCV004021527 uncertain significance not provided 2023-06-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome-Nilou Lab RCV000811899 SCV004049583 uncertain significance Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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