ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1255G>T (p.Glu419Ter) (rs372302139)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726742 SCV000702660 pathogenic not provided 2016-11-15 criteria provided, single submitter clinical testing
Invitae RCV000726742 SCV001214796 pathogenic not provided 2019-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu419*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs372302139, ExAC 0.002%). This variant has been observed in individual(s) with achromatopsia (PMID: 15657609, 28795510, 27479814). ClinVar contains an entry for this variant (Variation ID: 427690). 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 RCV000498538 SCV000575834 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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