ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.43_46dup (p.Ser16fs)

gnomAD frequency: 0.00001  dbSNP: rs767805540
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697020 SCV000825610 uncertain significance Pyridoxine-dependent epilepsy 2021-08-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser16Asnfs*42) in the ALDH7A1 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. 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. 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 RCV002332462 SCV002630883 uncertain significance Inborn genetic diseases 2019-07-12 criteria provided, single submitter clinical testing The c.43_46dupACCA variant, located in coding exon 1 of the ALDH7A1 gene, results from a duplication of ACCA at nucleotide position 43, causing a translational frameshift with a predicted alternate stop codon (p.S16Nfs*42). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay; however this variant is located upstream of an alternate in-frame translation initiation codon. Since this may result in expression of a different isoform and the biological contribution of each isoform is not well established, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000697020 SCV004050465 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.