ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.991-3T>G (rs773372519)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169173 SCV000220404 likely pathogenic Achromatopsia 3 2014-06-13 criteria provided, single submitter literature only
Invitae RCV001036288 SCV001199643 pathogenic not provided 2019-12-13 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the CNGB3 gene. It does not directly change the encoded amino acid sequence of the CNGB3 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs773372519, ExAC 0.003%). This variant has been observed in individual(s) with autosomal recessive achromatopsia (PMID: 15459792, 20079539, 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: 188827). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074271 SCV001239844 pathogenic Retinal dystrophy 2019-05-15 criteria provided, single submitter clinical testing
Institute for Ophthalmic Research,University Tuebingen RCV000169173 SCV000575846 likely pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research
Human Genetics - Radboudumc,Radboudumc RCV000678548 SCV000804627 pathogenic Leber congenital amaurosis 2016-09-01 no assertion criteria provided clinical testing

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