ClinVar Miner

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

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Total submissions: 4
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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 2019-12-24 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.
Institute for Ophthalmic Research,University Tuebingen 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

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