ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) (rs775796581)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415035 SCV000492719 pathogenic Nystagmus; Abnormal electroretinogram 2014-07-11 criteria provided, single submitter clinical testing
Counsyl RCV000498183 SCV000678190 pathogenic Achromatopsia 3 2015-09-03 criteria provided, single submitter clinical testing
Institute for Ophthalmic Research,University Tuebingen RCV000592388 SCV000700210 pathogenic Achromatopsia 2018-03-20 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727187 SCV000706474 pathogenic not provided 2017-02-20 criteria provided, single submitter clinical testing
Invitae RCV000727187 SCV000959880 pathogenic not provided 2019-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg274Valfs*13) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed to be homozygous or in combination with another CNGB3 variant in individuals affected with achromatopsia or an inherited retinal dystrophy (PMID: 10888875, 20079539, 29769798). This variant is also known as Pro160 del8bp, c.819_826del8 in the literature. ClinVar contains an entry for this variant (Variation ID: 374027). 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 RCV001074298 SCV001239871 pathogenic Retinal dystrophy 2019-06-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727187 SCV001245905 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Institute for Ophthalmic Research,University Tuebingen RCV000498183 SCV000575785 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504685 SCV000598866 pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research
Human Genetics - Radboudumc,Radboudumc RCV000504685 SCV000804626 pathogenic Leber congenital amaurosis 2016-09-01 no assertion criteria provided clinical testing

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