ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter) (rs200805087)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988076 SCV001137650 pathogenic Achromatopsia 3 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001222784 SCV001394900 pathogenic not provided 2020-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg604*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs200805087, ExAC 0.02%). This variant has not been reported in the literature in individuals with CNGB3-related conditions. Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 28795510). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504783 SCV000598864 likely pathogenic Abnormality of the eye 2015-01-01 no assertion criteria provided research Undetermined rare ocular disorder with frequency of less than eight patients

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