ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)

dbSNP: rs730880264
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
Neurogenetics Research Program, University of Adelaide RCV001794427 SCV001737595 pathogenic Cerebral palsy 2021-06-10 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000001705 SCV002819866 pathogenic Sjögren-Larsson syndrome 2022-12-28 criteria provided, single submitter clinical testing Variant summary: ALDH3A2 c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla) results in an in-frame deletion/insertion that is predicted to delete 2 amino acids and insert 8 amino acids into the encoded protein. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The frequency of this variant in the general population could not be determined as the technology used for large population databases (ExAC, gnomAD, ESP, 1000G) cannot detect variants of this type. c.941_943delinsGGGCTAAAAGTACTGTTGGGG has been reported in the literature in individuals affected with Sjogren-Larsson Syndrome or related disorders. These data indicate that the variant may be associated with disease. At least two publications report that FALDH activity in patients carrying this variant is <10% of normal activity. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000001705 SCV000021861 pathogenic Sjögren-Larsson syndrome 1997-05-01 no assertion criteria provided literature only

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.