ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)

dbSNP: rs281865188
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222718 SCV001394834 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-08-02 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: 99860). This premature translational stop signal has been observed in individuals with Joubert syndrome and retinitis pigmentosa (PMID: 16682973, 21866095, 28224992). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1884Thrfs*23) 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 RCV002490750 SCV002782870 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-02-28 criteria provided, single submitter clinical testing
Retina International RCV000086297 SCV000118443 not provided not provided no assertion provided not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678537 SCV000804611 pathogenic Retinitis pigmentosa 2016-09-01 no assertion criteria provided clinical testing

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