ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.112C>T (p.Gln38Ter) (rs786204498)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169174 SCV000220405 likely pathogenic Achromatopsia 3 2014-06-11 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000596854 SCV000700209 pathogenic Achromatopsia 2018-03-20 criteria provided, single submitter research
Invitae RCV001380986 SCV001579229 pathogenic not provided 2020-08-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln38*) 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 individual(s) with achrompatopsia (PMID: 15657609, 30418171, 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: 188828). Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 28795510). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000169174 SCV000575819 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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