Submissions for variant NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) (rs539400286)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
UW Hindbrain Malformation Research Program,University of Washington	RCV000201563	SCV000256374	pathogenic	Joubert syndrome 5	2015-02-23	criteria provided, single submitter	research
Genetic Services Laboratory,University of Chicago	RCV000502726	SCV000594072	pathogenic	Meckel syndrome, type 4	2016-01-04	criteria provided, single submitter	clinical testing
Fulgent Genetics,Fulgent Genetics	RCV000763314	SCV000893991	pathogenic	Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000816913	SCV000957442	pathogenic	Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis	2019-10-26	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg1465*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs539400286, ExAC 0.007%). This variant has been observed to segregate with Leber congenital amaurosis in a family and has been observed in combination with another CEP290 variant in unrelated individuals affected with this condition (PMID: 29398085, 20683928). ClinVar contains an entry for this variant (Variation ID: 217626). 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.
Kariminejad - Najmabadi Pathology & Genetics Center	RCV001030764	SCV001194259	pathogenic	Occipital encephalocele	2019-07-18	criteria provided, single submitter	clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center	RCV001002937	SCV001160972	pathogenic	Leber congenital amaurosis	2019-06-23	no assertion criteria provided	research