ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.126del (p.Thr43fs)

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
NxGen MDx RCV001506973 SCV001654148 likely pathogenic Sjögren-Larsson syndrome 2021-04-26 criteria provided, single submitter clinical testing This null variant (c.126del) on exon 1 of ALDH3A2 results in a frameshift (PVS1). This variant is not found in gnomAD population databases (PM2).This variant has been reported in trans with c.529C>T by family study for a patient with Sjögren-Larsson syndrome by Nagappa et al. (PMID 28025403). We interpret c.126delG to be likely pathogenic.

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.