ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6277del (p.Val2093fs)

gnomAD frequency: 0.00002  dbSNP: rs771454167
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201679 SCV000256367 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
GeneDx RCV000487320 SCV000568655 pathogenic not provided 2023-12-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift 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; This variant is associated with the following publications: (PMID: 17564967, 34426522, 26092869, 36369640, 34906470, 32359821, 31964843, 29398085, 21866095)
Genetic Services Laboratory, University of Chicago RCV000501294 SCV000594071 pathogenic Bardet-Biedl syndrome 14 2015-08-07 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000201679 SCV001149703 pathogenic Joubert syndrome 5 2020-01-16 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001002716 SCV001156392 pathogenic Senior-Loken syndrome 6 2019-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001224012 SCV001396185 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val2093Serfs*4) 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 present in population databases (rs771454167, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with clinical features of CEP290-related conditions (PMID: 17564967, 21866095, 26092869). ClinVar contains an entry for this variant (Variation ID: 217621). For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376478 SCV001573633 likely pathogenic Leber congenital amaurosis 10 2021-04-08 criteria provided, single submitter research The CEP290 c.6277del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002500628 SCV002775885 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-03-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000501294 SCV004214851 pathogenic Bardet-Biedl syndrome 14 2023-11-29 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000201679 SCV005368433 pathogenic Joubert syndrome 5 2020-04-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828038 SCV002091845 pathogenic Leber congenital amaurosis 2021-09-15 no assertion criteria provided clinical testing

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