ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.67A>G (p.Ser23Gly)

gnomAD frequency: 0.00001  dbSNP: rs796052266
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186754 SCV000240321 uncertain significance not provided 2018-09-21 criteria provided, single submitter clinical testing p.Ser23Gly (AGC>GGC): c.67 A>G in exon 1 of the ALDH7A1 gene (NM_001182.4). The S23G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S23G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The S23G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001307332 SCV001496739 uncertain significance Pyridoxine-dependent epilepsy 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 23 of the ALDH7A1 protein (p.Ser23Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). 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: 204856). 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 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.
Ambry Genetics RCV002513978 SCV003697546 uncertain significance Inborn genetic diseases 2022-06-17 criteria provided, single submitter clinical testing The c.67A>G (p.S23G) alteration is located in exon 1 (coding exon 1) of the ALDH7A1 gene. This alteration results from a A to G substitution at nucleotide position 67, causing the serine (S) at amino acid position 23 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001307332 SCV004050431 uncertain significance Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.