ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs) (rs62638180)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803171 SCV000943033 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1938Asnfs*16) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in at least one individual affected with Leber congenital amaurosis (LCA) (PMID: 16909394, 21153841, 20690115) as well as in a family with LCA (PMID: 17705300). ClinVar contains an entry for this variant (Variation ID: 99861). 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.
Retina International RCV000086299 SCV000118445 not provided not provided no assertion provided not provided

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