ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)

gnomAD frequency: 0.00003  dbSNP: rs267606739
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Total submissions: 9
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001068378 SCV001233487 pathogenic not provided 2024-09-22 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. Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 28795510). This variant is present in population databases (rs267606739, gnomAD 0.007%). This premature translational stop signal has been observed in individuals with achromatopsia, early-onset retinal dystrophy, and/or Leber congenital amaurosis (PMID: 10958649, 25205868, 27874104, 29186038). It has also been observed to segregate with disease in related individuals. 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 disrupt the consensus splice site. 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
Baylor Genetics RCV000005533 SCV001482634 pathogenic Achromatopsia 3 2019-10-11 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. The c.607C>T (p.R203*) variant has been previously reported as pathogenic [PMID 10958649, 27874104, 29186038, 25525159]
CeGaT Center for Human Genetics Tuebingen RCV001068378 SCV004042348 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing CNGB3: PM3:Very Strong, PVS1, PM2
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001074242 SCV005073009 pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
OMIM RCV000005533 SCV000025715 pathogenic Achromatopsia 3 2000-09-01 no assertion criteria provided literature only
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000005533 SCV000575824 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research
Natera, Inc. RCV001272489 SCV001454555 pathogenic Achromatopsia 2020-09-16 no assertion criteria provided clinical testing

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