ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.995C>G (p.Thr332Ser)

dbSNP: rs543182575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692344 SCV000820161 uncertain significance Pyridoxine-dependent epilepsy 2021-10-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 332 of the ALDH7A1 protein (p.Thr332Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with ALDH7A1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002315993 SCV000848646 uncertain significance Inborn genetic diseases 2016-12-15 criteria provided, single submitter clinical testing The p.T332S variant (also known as c.995C>G), located in coding exon 11 of the ALDH7A1 gene, results from a C to G substitution at nucleotide position 995. The threonine at codon 332 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000692344 SCV004049012 uncertain significance Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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