ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)

dbSNP: rs886043303
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000360035 SCV000339353 pathogenic not provided 2016-02-12 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415286 SCV000492800 pathogenic Global developmental delay; Blindness 2015-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000636995 SCV000758443 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg504Serfs*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. ClinVar contains an entry for this variant (Variation ID: 286074). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000360035 SCV001168966 pathogenic not provided 2024-01-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36990420, 34426522, 31623504)
Fulgent Genetics, Fulgent Genetics RCV002494853 SCV002779748 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-01-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463764 SCV004214847 likely pathogenic Bardet-Biedl syndrome 14 2023-10-20 criteria provided, single submitter clinical testing

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