ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)

gnomAD frequency: 0.00001  dbSNP: rs1429786931
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597545 SCV000707501 pathogenic not provided 2017-04-03 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074918 SCV001240523 likely pathogenic Retinal dystrophy 2017-03-07 criteria provided, single submitter clinical testing
Invitae RCV001389835 SCV001591343 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-05-20 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: 501219). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 15024725). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg852*) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016).
Genome-Nilou Lab RCV001261185 SCV002045186 pathogenic Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800828 SCV002045197 pathogenic Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001389835 SCV002810361 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-05-10 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001261185 SCV001438584 pathogenic Leber congenital amaurosis 6 no assertion criteria provided research
Clinical Genetics, Academic Medical Center RCV000597545 SCV001917767 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000597545 SCV001955977 pathogenic not provided no assertion criteria provided clinical testing

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