ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs) (rs756302731)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457599 SCV000541575 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-10-04 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 37 of the CEP290 mRNA (c.4966_4967delGA), causing a frameshift at codon 1656. This creates a premature translational stop signal (p.Glu1656Asnfs*3) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with nephronophthisis-related ciliopathies and Joubert syndrome (PMID: 17409309, 26673778, 26092869). A different variant (c.4962_4963delAA) giving rise to the same protein effect observed here (p.Glu1656Asnfs*3) has been reported in an individual affected with Leber congenital amaurosis (PMID: 17345604). For these reasons, this variant has been classified as Pathogenic.
UW Hindbrain Malformation Research Program,University of Washington RCV000201538 SCV000256380 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research

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