ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) (rs575767207)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201766 SCV000256388 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
GeneDx RCV000598977 SCV000709796 pathogenic not provided 2014-06-25 criteria provided, single submitter clinical testing The R1782X nonsense variant in the CEP290 gene has been reported previously in association with Leber congenital amaurosis (LCA) (Coppieters et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Fulgent Genetics,Fulgent Genetics RCV000763310 SCV000893987 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000201766 SCV000923724 pathogenic Joubert syndrome 5 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV001058542 SCV001223122 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1782*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs575767207, ExAC 0.007%). This variant has been observed in individual(s) with CEP290-related conditions (PMID: 20683928, 29146704). ClinVar contains an entry for this variant (Variation ID: 217636). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115, 25377065, 28559085). For these reasons, this variant has been classified as Pathogenic.

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