ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1781+1del (rs1554607546)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000497830 SCV000789904 likely pathogenic Achromatopsia 3 2017-03-24 criteria provided, single submitter clinical testing
Invitae RCV001046928 SCV001210853 pathogenic not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 15 of the CNGB3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with achromatopsia (PMID: 28795510). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 427707). 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.
Institute for Ophthalmic Research,University Tuebingen RCV000497830 SCV000575856 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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