Submissions for variant NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)

dbSNP: rs776289402

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000995114	SCV001149118	likely pathogenic	not provided	2017-09-01	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001075715	SCV001241343	pathogenic	Retinal dystrophy	2019-05-08	criteria provided, single submitter	clinical testing
Invitae	RCV001201958	SCV001373053	pathogenic	Cone-rod dystrophy 13; Leber congenital amaurosis 6	2022-04-25	criteria provided, single submitter	clinical testing	This premature translational stop signal has been observed in individuals with Leber congenital amaurosis (PMID: 28714225, 30576320). ClinVar contains an entry for this variant (Variation ID: 560506). For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs776289402, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Asn907*) 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	RCV000678627	SCV002045209	pathogenic	Leber congenital amaurosis 6	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001800846	SCV002045220	pathogenic	Cone-rod dystrophy 13	2021-11-07	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000678627	SCV000804715	pathogenic	Leber congenital amaurosis 6	2016-09-01	no assertion criteria provided	clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine	RCV000678627	SCV001438586	pathogenic	Leber congenital amaurosis 6		no assertion criteria provided	research