ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)

dbSNP: rs886042360
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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) RCV000593831 SCV000700909 pathogenic not provided 2015-08-11 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199656 SCV001162444 pathogenic Leber congenital amaurosis 2020-01-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000593831 SCV001246563 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001384490 SCV001584000 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1935*) 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: 282259). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469223 SCV004216676 likely pathogenic Bardet-Biedl syndrome 14 2023-03-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004732816 SCV005362403 pathogenic CEP290-related disorder 2023-12-10 no assertion criteria provided clinical testing The CEP290 c.5803G>T variant is predicted to result in premature protein termination (p.Glu1935*). This variant has been reported in an individual presenting with Leber congenital amaurosis who was also positive for a second variant in CEP290 (Table S2, #140, Weisschuh et al. 2020. PubMed ID: 32531858). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CEP290 are expected to be pathogenic. This variant is interpreted as pathogenic.

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