ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1119G>A (p.Trp373Ter) (rs786204762)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169624 SCV000221152 likely pathogenic Achromatopsia 3 2015-02-23 criteria provided, single submitter literature only
GeneDx RCV000255345 SCV000322407 pathogenic not provided 2016-04-14 criteria provided, single submitter clinical testing The W373X pathogenic variant in the CNGB3 gene has been reported previously in the homozygous state in an individual with achromatopsia (Kohl et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W373X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Therefore, we interpret W373X as a pathogenic variant.
Blueprint Genetics RCV001074476 SCV001240061 pathogenic Retinal dystrophy 2017-08-10 criteria provided, single submitter clinical testing
Invitae RCV000255345 SCV001383089 pathogenic not provided 2019-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp373*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with achromatopsia (PMID: 15657609, 28795510). ClinVar contains an entry for this variant (Variation ID: 189190). 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 RCV000169624 SCV000575831 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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