Submissions for variant NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter)

gnomAD frequency: 0.00002  dbSNP: rs201320564

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV001073613	SCV001239164	pathogenic	Retinal dystrophy	2019-07-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001386012	SCV001586087	pathogenic	not provided	2024-01-18	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg478*) 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 (rs201320564, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with achromatopsia (PMID: 15657609, 28795510). ClinVar contains an entry for this variant (Variation ID: 427692). 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.
Molecular Genetics Laboratory, Institute for Ophthalmic Research	RCV000498120	SCV000575836	pathogenic	Achromatopsia 3	2017-03-27	no assertion criteria provided	research
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787572	SCV000926552	pathogenic	Achromatopsia	2018-04-01	no assertion criteria provided	research
Natera, Inc.	RCV000787572	SCV002076073	pathogenic	Achromatopsia	2020-02-11	no assertion criteria provided	clinical testing