ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter)

gnomAD frequency: 0.00005  dbSNP: rs367576664
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223494 SCV001395646 pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 162135). This premature translational stop signal has been observed in individual(s) with autosomal recessive macular dystrophy (PMID: 23993198). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs367576664, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg507*) in the IMPG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IMPG1 are known to be pathogenic (PMID: 23993198).
OMIM RCV000149549 SCV000196506 pathogenic Vitelliform macular dystrophy 4 2013-09-05 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.