Submissions for variant NM_025114.4(CEP290):c.679_680del (p.Glu227fs)

dbSNP: rs62640578

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001385881	SCV001585889	pathogenic	Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	2020-07-23	criteria provided, single submitter	clinical testing	This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115, 25377065, 28559085). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 16909394). ClinVar contains an entry for this variant (Variation ID: 99863). This sequence change creates a premature translational stop signal (p.Glu227Serfs*2) in the CEP290 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics	RCV002505022	SCV002817031	pathogenic	Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14	2021-08-17	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003467017	SCV004216749	pathogenic	Bardet-Biedl syndrome 14	2022-05-10	criteria provided, single submitter	clinical testing
Retina International	RCV000086301	SCV000118447	not provided	not provided		no assertion provided	not provided
Clinical Genetics, Academic Medical Center	RCV000086301	SCV001924221	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000086301	SCV001954404	pathogenic	not provided		no assertion criteria provided	clinical testing