Submissions for variant NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs)

dbSNP: rs749331348

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000801430	SCV000941206	pathogenic	Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	2023-11-19	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Thr1816Ilefs*3) 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 present in population databases (rs749331348, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 21068128). ClinVar contains an entry for this variant (Variation ID: 647028). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity	RCV003141798	SCV003820684	pathogenic	not provided	2022-12-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003467385	SCV004216736	pathogenic	Bardet-Biedl syndrome 14	2024-03-12	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001830724	SCV002094186	pathogenic	Leber congenital amaurosis	2021-06-18	no assertion criteria provided	clinical testing