Submissions for variant NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)

dbSNP: rs775796581

Total submissions: 18

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
Molecular Genetics Laboratory, Institute for Ophthalmic Research	RCV000592388	SCV000700210	pathogenic	Achromatopsia	2018-03-20	criteria provided, single submitter	research
Eurofins Ntd Llc (ga)	RCV000727187	SCV000706474	pathogenic	not provided	2017-02-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000727187	SCV000959880	pathogenic	not provided	2024-10-22	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. Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 28795510). This variant is present in population databases (rs775796581, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with achromatopsia or an inherited retinal dystrophy (PMID: 10888875, 20079539, 29769798). This variant is also known as Pro160 del8bp, c.819_826del8. ClinVar contains an entry for this variant (Variation ID: 374027). 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 Center for Human Genetics Tuebingen	RCV000727187	SCV001245905	pathogenic	not provided	2023-12-01	criteria provided, single submitter	clinical testing	CNGB3: PVS1, PM3:Strong, PM2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000498183	SCV001368242	pathogenic	Achromatopsia 3	2016-01-01	criteria provided, single submitter	clinical testing	This variant was classified as: Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000727187	SCV001762189	pathogenic	not provided	2021-06-17	criteria provided, single submitter	clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV000498183	SCV002577447	pathogenic	Achromatopsia 3	2022-09-23	criteria provided, single submitter	clinical testing	PVS1, PM2, PP5
GeneDx	RCV000727187	SCV004012353	pathogenic	not provided	2023-07-05	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25558176, 17652762, 15657609, 22975760, 20079539, 10888875, 28795510, 28041643, 15712225, 30418171, 32581362, 33807868, 34426522, 32531858, 34449556, 29769798)
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001074298	SCV005071319	pathogenic	Retinal dystrophy	2023-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000498183	SCV005679220	pathogenic	Achromatopsia 3	2024-02-07	criteria provided, single submitter	clinical testing
OMIM	RCV000498183	SCV000025719	pathogenic	Achromatopsia 3	2000-07-01	no assertion criteria provided	literature only
Molecular Genetics Laboratory, Institute for Ophthalmic Research	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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000504685	SCV000804626	pathogenic	Leber congenital amaurosis	2016-09-01	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000592388	SCV001454553	pathogenic	Achromatopsia	2020-09-16	no assertion criteria provided	clinical testing