ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1008+4A>G (rs753819188)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425365 SCV000528781 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing The c.1008+4 A>G variant has notbeen published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1008+4 A>G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This nucleotide substitution occurs at a position that is conserved in mammals. Several in-silico splice prediction models predict that c.1008+4 A>G damages the natural splice donor site, which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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.