ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3185del (p.Leu1062fs)

gnomAD frequency: 0.00001  dbSNP: rs863225189
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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 RCV000201682 SCV000256390 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001383861 SCV001583175 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1062Argfs*3) 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 individuals with Joubert syndrome and/or Leber congenital amaurosis (PMID: 21153841, 26092869). ClinVar contains an entry for this variant (Variation ID: 217638). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003468925 SCV004216564 pathogenic Bardet-Biedl syndrome 14 2024-02-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835724 SCV002094268 pathogenic Leber congenital amaurosis 2020-03-12 no assertion criteria provided clinical testing

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