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

Total submissions: 10

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