ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1063C>T (p.Arg355Ter) (rs764742792)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000497762 SCV000792142 likely pathogenic Achromatopsia 3 2017-06-16 criteria provided, single submitter clinical testing
Invitae RCV001216532 SCV001388333 pathogenic not provided 2019-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg355*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764742792, ExAC 0.009%). This variant has been observed in several individuals affected with Achromatopsia (PMID: 28795510). ClinVar contains an entry for this variant (Variation ID: 427687). 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 RCV000497762 SCV000575830 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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