ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1210C>T (p.Arg404Cys)

gnomAD frequency: 0.00004  dbSNP: rs181287032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001155172 SCV001316582 uncertain significance Pyridoxine-dependent epilepsy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001155172 SCV001373722 uncertain significance Pyridoxine-dependent epilepsy 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 404 of the ALDH7A1 protein (p.Arg404Cys). This variant is present in population databases (rs181287032, gnomAD 0.02%). 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: 906182). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
Genome-Nilou Lab RCV001155172 SCV004050657 uncertain significance Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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