ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.2112delA (p.Val705Leufs) (rs863225183)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686453 SCV000813972 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-06-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val705Leufs*11) 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 an individual affected with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217627). 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.
UW Hindbrain Malformation Research Program,University of Washington RCV000201612 SCV000256375 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research

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