ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) (rs373862340)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169343 SCV000220705 likely pathogenic Achromatopsia 3 2014-09-17 criteria provided, single submitter literature only
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000761286 SCV000891258 pathogenic Achromatopsia 2018-10-03 criteria provided, single submitter clinical testing
Invitae RCV000809121 SCV000949262 pathogenic not provided 2019-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu336*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs373862340, ExAC 0.01%). This variant has been observed in individuals affected with achromatopsia (PMID: 15657609, 24148654, 27479814, 28795510). ClinVar contains an entry for this variant (Variation ID: 188968). Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 15657609). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074313 SCV001239886 pathogenic Retinal dystrophy 2019-06-29 criteria provided, single submitter clinical testing
Institute for Ophthalmic Research,University Tuebingen RCV000169343 SCV000575829 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research
Sharon lab,Hadassah-Hebrew University Medical Center RCV000761286 SCV001161030 pathogenic Achromatopsia 2019-06-23 no assertion criteria provided research

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