ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.734_735del (p.Glu245fs)

dbSNP: rs1592671672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991447 SCV001142844 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2019-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001389258 SCV001590550 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu245Valfs*10) 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 variant has not been reported in the literature in individuals affected with CEP290-related conditions. For these reasons, this variant has been classified as Pathogenic.

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