ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.165_193del (p.Pro57fs)

dbSNP: rs63749126
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 RCV000084913 SCV003787194 pathogenic not provided 2022-08-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 98616). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GPR143-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Pro57Leufs*34) in the GPR143 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GPR143 are known to be pathogenic (PMID: 15965158, 18978956, 19390656, 21541274, 26160353, 28211458).
Retina International RCV000084913 SCV000117049 not provided not provided no assertion provided not provided

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.