ClinVar Miner

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

dbSNP: rs758593134
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542843 SCV000634642 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-09-22 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. Variants that disrupt the donor or acceptor splice site 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). This variant is present in population databases (rs758593134, gnomAD 0.001%). Disruption of this splice site has been observed in individual(s) with Leber congenital amaurosis (PMID: 16909394; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 461777). 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.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199655 SCV001162443 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001091342 SCV001247310 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002289749 SCV002579306 pathogenic Meckel syndrome, type 4 2021-10-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497107 SCV002779160 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-11-18 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787558 SCV000926534 likely pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research
Natera, Inc. RCV000787558 SCV002094945 pathogenic Leber congenital amaurosis 2020-07-09 no assertion criteria provided clinical testing

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