Submissions for variant NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)

dbSNP: rs1292516576

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002541764	SCV003449720	pathogenic	Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	2022-08-10	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 993032). This premature translational stop signal has been observed in individual(s) with clinical features of Joubert syndrome (PMID: 22693042, 29620724). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1572*) 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).
Revvity Omics, Revvity	RCV003135916	SCV003826180	likely pathogenic	not provided	2022-10-28	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003989669	SCV004808200	pathogenic	Leber congenital amaurosis 10	2024-03-29	criteria provided, single submitter	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV001283851	SCV001469287	pathogenic	Joubert syndrome 5	2020-10-11	no assertion criteria provided	clinical testing