ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5580del (p.Leu1861fs)

dbSNP: rs1592807018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008242 SCV001168008 pathogenic not provided 2022-04-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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)
Fulgent Genetics, Fulgent Genetics RCV001535995 SCV001752668 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860589 SCV002228477 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1861Tyrfs*6) 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 has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 817139). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency).
Natera, Inc. RCV001827170 SCV002091864 likely pathogenic Leber congenital amaurosis 2021-06-01 no assertion criteria provided clinical testing

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