ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1578+1G>A (rs372006750)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169421 SCV000220830 likely pathogenic Achromatopsia 3 2014-10-22 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724126 SCV000225904 pathogenic not provided 2014-10-17 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000592120 SCV000700213 pathogenic Achromatopsia 2018-03-20 criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000169421 SCV001366575 pathogenic Achromatopsia 3 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PM3,PP3,PP5.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000724126 SCV001447843 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000169421 SCV001548063 likely pathogenic Achromatopsia 3 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV000724126 SCV001586086 pathogenic not provided 2020-10-31 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 of the CNGB3 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 (rs372006750, ExAC 0.01%). This variant has been observed in individual(s) with achromatopsia (PMID: 10958649, 12187429). ClinVar contains an entry for this variant (Variation ID: 189031). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 28795510). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000169421 SCV000575851 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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