Submissions for variant NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) (rs386834152)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
UW Hindbrain Malformation Research Program,University of Washington	RCV000201755	SCV000256385	pathogenic	Joubert syndrome 5	2015-02-23	criteria provided, single submitter	research
Invitae	RCV000685655	SCV000813143	pathogenic	Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis	2018-09-24	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln662*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another CEP290 variant in individuals affected with Joubert syndrome (PMID: 26092869) and has been observed in individuals affected with CEP290-related conditions (PMID: 17564974, 23188109, 23351400, 19466712). ClinVar contains an entry for this variant (Variation ID: 56733). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	RCV000050146	SCV000082556	probable-pathogenic	Meckel syndrome, type 4		no assertion criteria provided	not provided	Converted during submission to Likely pathogenic.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet	RCV000787559	SCV000926535	pathogenic	Leber congenital amaurosis	2018-04-01	no assertion criteria provided	research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet	RCV000787812	SCV000926822	pathogenic	Retinitis pigmentosa	2018-04-01	no assertion criteria provided	research
Natera, Inc.	RCV000787559	SCV001457920	pathogenic	Leber congenital amaurosis	2020-09-16	no assertion criteria provided	clinical testing