ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1066-1G>A (rs965522059)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506801 SCV000602966 pathogenic not specified 2017-03-08 criteria provided, single submitter clinical testing
Invitae RCV000636990 SCV000758438 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-02-26 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 of the CEP290 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another CEP290 variant in an individual affected with Joubert syndrome (PMID: 17617513), and in an individual with Leber congenital amaurosis (PMID: 21153841). ClinVar contains an entry for this variant (Variation ID: 439474). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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.
Fulgent Genetics,Fulgent Genetics RCV000763318 SCV000893995 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

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