Submissions for variant NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)

dbSNP: rs771266705

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000625900	SCV000746479	pathogenic	Bardet-Biedl syndrome 14	2017-12-03	criteria provided, single submitter	clinical testing
Invitae	RCV001041101	SCV001204697	pathogenic	Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	2023-10-03	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ile474Argfs*5) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). This variant is present in population databases (rs771266705, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Senior-L√∏ken syndrome (PMID: 17617513). ClinVar contains an entry for this variant (Variation ID: 522742). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579418	SCV001807162	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579418	SCV001971197	pathogenic	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001834980	SCV002094331	pathogenic	Leber congenital amaurosis	2021-05-06	no assertion criteria provided	clinical testing