Submissions for variant NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs)

dbSNP: rs62640580

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001230884	SCV001403384	pathogenic	Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	2024-01-12	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Thr709Serfs*9) 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). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 16909394). This variant is also known as c.2118_2122dupTCAGC. ClinVar contains an entry for this variant (Variation ID: 99847). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV000086282	SCV002063059	pathogenic	not provided	2021-12-01	criteria provided, single submitter	clinical testing
Retina International	RCV000086282	SCV000118428	not provided	not provided		no assertion provided	not provided
Natera, Inc.	RCV001831896	SCV002094304	pathogenic	Leber congenital amaurosis	2017-09-23	no assertion criteria provided	clinical testing