ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4384del (p.Glu1462fs)

dbSNP: rs863225182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201700 SCV000256373 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002517311 SCV003441209 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1462Argfs*5) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 217625). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 26092869). This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV003468918 SCV004216584 pathogenic Bardet-Biedl syndrome 14 2024-01-26 criteria provided, single submitter clinical testing

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