ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.607C>T (p.Arg203Ter) (rs267606739)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005533 SCV000220887 likely pathogenic Achromatopsia 3 2014-11-14 criteria provided, single submitter literature only
Invitae RCV001068378 SCV001233487 pathogenic not provided 2019-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg203*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs267606739, ExAC 0.01%). This variant has been observed to segregate with achromatopsia in a family and in unrelated individuals affected with this condition, Leber congenital amaurosis or early-onset retinal dystrophy (PMID: 10958649, 25205868, 29186038, 27874104). ClinVar contains an entry for this variant (Variation ID: 5223). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV001074242 SCV001239815 pathogenic Retinal dystrophy 2019-04-13 criteria provided, single submitter clinical testing
OMIM RCV000005533 SCV000025715 pathogenic Achromatopsia 3 2000-09-01 no assertion criteria provided literature only
Institute for Ophthalmic Research,University Tuebingen RCV000005533 SCV000575824 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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