ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.180+1G>A (rs758593134)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542843 SCV000634642 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-12-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the CEP290 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs758593134, ExAC 0.003%). Disruption of this splice site has been observed in individuals with Leber congenital amaurosis (PMID: 16909394, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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.
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199655 SCV001162443 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091342 SCV001247310 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787558 SCV000926534 likely pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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