ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2483C>A (p.Ala828Asp)

dbSNP: rs755123128
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
Genetic Services Laboratory, University of Chicago RCV000193027 SCV000248728 uncertain significance not specified 2014-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517127 SCV003618657 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.2483C>A (p.A828D) alteration is located in exon 17 (coding exon 16) of the RPGRIP1L gene. This alteration results from a C to A substitution at nucleotide position 2483, causing the alanine (A) at amino acid position 828 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005008127 SCV005642050 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-03-22 criteria provided, single submitter clinical testing

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.