ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.4962_4963delAA (p.Glu1656Asnfs) (rs764309755)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694088 SCV000822515 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1656Asnfs*3) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in combination with a second pathogenic variant in individuals affected with Leber congenital amaurosis (PMID: 17345604, 21153841). A different variant (c.4966_4967delGA) giving rise to the same protein effect observed here (p.Glu1656Asnfs*3) has been reported in individuals affected with nephronophthisis-related ciliopathies and Joubert syndrome (PMID: 17409309, 26673778, 26092869). 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.

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