ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)

dbSNP: rs779956047
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
Counsyl RCV000673274 SCV000798457 likely pathogenic Sjögren-Larsson syndrome 2018-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001385894 SCV001585910 pathogenic not provided 2023-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val327*) in the ALDH3A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDH3A2 are known to be pathogenic (PMID: 10577908, 10854114). This variant is present in population databases (rs779956047, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALDH3A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 557168). For these reasons, this variant has been classified as Pathogenic.
DASA RCV000673274 SCV002097290 pathogenic Sjögren-Larsson syndrome 2022-02-14 criteria provided, single submitter clinical testing The c.979del;p.(Val327*) is a null frameshift variant in the ALDH3A2 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 557168) - PS4_supporting. This variant is not present in population databases (rs779956047, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is 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.