Submissions for variant NM_020366.4(RPGRIP1):c.673del (p.His225fs)

dbSNP: rs752263228

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	RCV000761349	SCV000891335	likely pathogenic	Leber congenital amaurosis 6	2017-02-07	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001074662	SCV001240254	likely pathogenic	Retinal dystrophy	2019-03-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001335049	SCV001528087	pathogenic	Cone-rod dystrophy 13	2018-08-22	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab	RCV000761349	SCV002044703	pathogenic	Leber congenital amaurosis 6	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001335049	SCV002044714	pathogenic	Cone-rod dystrophy 13	2021-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV003768292	SCV004577205	pathogenic	Cone-rod dystrophy 13; Leber congenital amaurosis 6	2023-04-07	criteria provided, single submitter	clinical testing	This premature translational stop signal has been observed in individual(s) with retinal dystrophy (PMID: 31429209). This variant is present in population databases (rs752263228, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.His225Thrfs*50) 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). ClinVar contains an entry for this variant (Variation ID: 623224). For these reasons, this variant has been classified as Pathogenic.