ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) (rs539400286)

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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 RCV000201563 SCV000256374 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Genetic Services Laboratory, University of Chicago RCV000502726 SCV000594072 pathogenic Meckel syndrome type 4 2016-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763314 SCV000893991 pathogenic Leber congenital amaurosis 10; Meckel syndrome type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000816913 SCV000957442 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1465*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs539400286, ExAC 0.007%). This variant has been observed to segregate with Leber congenital amaurosis in a family and has been observed in combination with another CEP290 variant in unrelated individuals affected with this condition (PMID: 29398085, 20683928). ClinVar contains an entry for this variant (Variation ID: 217626). 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.

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