ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.294del (p.Ile99fs)

dbSNP: rs1597331616
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790979 SCV000930239 likely pathogenic Retinitis pigmentosa 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790980 SCV000930240 likely pathogenic Cone-rod dystrophy 2 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790981 SCV000930241 likely pathogenic Leber congenital amaurosis 4 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV000790981 SCV004333853 pathogenic Leber congenital amaurosis 4 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile99Serfs*6) in the AIPL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AIPL1 are known to be pathogenic (PMID: 10615133, 15249368, 15347646). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AIPL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 638356). For these reasons, this variant has been classified as 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.