ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)

dbSNP: rs727503853
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201601 SCV000256369 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000790777 SCV000331517 pathogenic not provided 2014-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001230296 SCV001402771 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 166831). This premature translational stop signal has been observed in individuals with Joubert syndrome (PMID: 17564967, 28497568). This variant is present in population databases (rs727503853, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Gln1871Valfs*2) 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).
Fulgent Genetics, Fulgent Genetics RCV002492571 SCV002780573 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467210 SCV004216750 pathogenic Bardet-Biedl syndrome 14 2022-05-06 criteria provided, single submitter clinical testing

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