ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.577G>A (p.Ala193Thr)

gnomAD frequency: 0.00001  dbSNP: rs773503933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179376 SCV000231614 uncertain significance not provided 2015-03-20 criteria provided, single submitter clinical testing
Invitae RCV000702587 SCV000831446 uncertain significance Pyridoxine-dependent epilepsy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 193 of the ALDH7A1 protein (p.Ala193Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs773503933, ExAC 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: 198127). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV000702587 SCV004049727 uncertain significance Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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