ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1808G>A (p.Gly603Asp)

gnomAD frequency: 0.00001  dbSNP: rs537925312
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000871052 SCV001012647 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271331 SCV001452416 uncertain significance Familial aplasia of the vermis 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733077 SCV005347992 uncertain significance RPGRIP1L-related disorder 2024-09-23 no assertion criteria provided clinical testing The RPGRIP1L c.1808G>A variant is predicted to result in the amino acid substitution p.Gly603Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.10% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.