ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)

gnomAD frequency: 0.00001  dbSNP: rs137852835
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042869 SCV001206576 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg205*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with Meckel syndrome (PMID: 17564974). ClinVar contains an entry for this variant (Variation ID: 1342). For these reasons, this variant has been classified as Pathogenic.
Center for Reproductive Medicine, Peking University Third Hospital RCV001257362 SCV001433888 pathogenic Encephalocele; Polycystic kidney disease; Severe hydrocephalus 2019-10-16 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376372 SCV001573490 pathogenic Leber congenital amaurosis 10 2021-04-08 criteria provided, single submitter research The CEP290 c.613C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM3. Based on this evidence we have classified this variant as Pathogenic.
Revvity Omics, Revvity RCV001781163 SCV002017030 pathogenic not provided 2020-09-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496228 SCV002811090 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-07-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466779 SCV004216557 pathogenic Bardet-Biedl syndrome 14 2023-08-21 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887847 SCV004707708 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
OMIM RCV000001407 SCV000021557 pathogenic Meckel syndrome, type 4 2007-07-01 no assertion criteria provided literature only
Natera, Inc. RCV001274134 SCV001457931 pathogenic Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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