ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs)

dbSNP: rs2036318355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246193 SCV001419533 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2019-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1622Phefs*9) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Meckel-Gruber or Meckel-like syndrome (PMID: 23351400). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115, 25377065, 28559085). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469474 SCV004216711 pathogenic Bardet-Biedl syndrome 14 2023-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012679 SCV005630024 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-04-21 criteria provided, single submitter clinical testing

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