ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)

dbSNP: rs863225185
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201653 SCV000256378 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Genetic Services Laboratory, University of Chicago RCV000503197 SCV000594075 pathogenic Meckel syndrome, type 4 2017-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519580 SCV003513370 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr218*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217630). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003159108 SCV003853061 pathogenic not provided 2023-10-19 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26092869)

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