ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) (rs386834152)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201755 SCV000256385 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Invitae RCV000685655 SCV000813143 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln662*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another CEP290 variant in individuals affected with Joubert syndrome (PMID: 26092869) and has been observed in individuals affected with CEP290-related conditions (PMID: 17564974, 23188109, 23351400, 19466712). ClinVar contains an entry for this variant (Variation ID: 56733). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050146 SCV000082556 probable-pathogenic Meckel syndrome, type 4 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787559 SCV000926535 pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787812 SCV000926822 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Natera, Inc. RCV000787559 SCV001457920 pathogenic Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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