Submissions for variant NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)

dbSNP: rs1592784618

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001860525	SCV002150752	pathogenic	Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	2023-08-25	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 812264). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with CEP290-related conditions (PMID: 23034536). This sequence change creates a premature translational stop signal (p.Lys1930*) 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 not present in population databases (gnomAD no frequency).
Baylor Genetics	RCV003467562	SCV004216663	pathogenic	Bardet-Biedl syndrome 14	2023-04-10	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003890157	SCV004707646	pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001002935	SCV001160970	pathogenic	Leber congenital amaurosis	2019-06-23	no assertion criteria provided	research