ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.644-1G>C (rs201794629)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169108 SCV000220308 likely pathogenic Achromatopsia 3 2014-05-12 criteria provided, single submitter literature only
Invitae RCV000814009 SCV000954397 pathogenic not provided 2020-10-02 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 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 (rs201794629, ExAC 0.006%). This variant has been observed in several families affected with achromatopsia (PMID: 15657609, 28795510, 25616768). ClinVar contains an entry for this variant (Variation ID: 188780). 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: 15657609). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000814009 SCV001819278 pathogenic not provided 2020-01-06 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31456290, 28795510, 25616768, 15657609, 31544997)
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000169108 SCV000575843 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002980 SCV001161033 pathogenic Achromatopsia 2019-06-23 no assertion criteria provided research
Natera, Inc. RCV001002980 SCV001454554 pathogenic Achromatopsia 2020-09-16 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535671 SCV001749734 not provided Achromatopsia 3; Stargardt disease 1; Retinitis pigmentosa no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 02-21-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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