Submissions for variant NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)

gnomAD frequency: 0.00004  dbSNP: rs192003551

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724658	SCV000227492	pathogenic	not provided	2015-03-02	criteria provided, single submitter	clinical testing
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000175918	SCV000267482	pathogenic	Cone-rod dystrophy 13	2016-03-18	criteria provided, single submitter	reference population
Baylor Genetics	RCV000175918	SCV001528084	pathogenic	Cone-rod dystrophy 13	2018-08-30	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab	RCV001261169	SCV002044681	pathogenic	Leber congenital amaurosis 6	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000175918	SCV002044692	pathogenic	Cone-rod dystrophy 13	2021-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV001852161	SCV002211546	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: 195355). This premature translational stop signal has been observed in individual(s) with inherited retinal disorders (PMID: 23105016, 28456785, 31736247). This variant is present in population databases (rs192003551, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg52*) 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).
Laboratory of Genetics in Ophthalmology, Institut Imagine	RCV001261169	SCV001438565	pathogenic	Leber congenital amaurosis 6		no assertion criteria provided	research