Submissions for variant NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)

dbSNP: rs760430056

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001064707	SCV001229622	pathogenic	not provided	2023-10-29	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Leu849Alafs*3) in the CNGB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGB1 are known to be pathogenic (PMID: 15557452, 24043777). This variant is present in population databases (rs760430056, gnomAD 0.009%). This premature translational stop signal has been observed in individuals with inherited retinal disease (PMID: 26667666, 26894784, 28056120). ClinVar contains an entry for this variant (Variation ID: 236511). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics	RCV000225473	SCV001239898	pathogenic	Retinal dystrophy	2019-07-09	criteria provided, single submitter	clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV001376356	SCV001573473	likely pathogenic	Retinitis pigmentosa 45	2021-04-08	criteria provided, single submitter	research	The CNGB1 c.2544dup variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001723813	SCV001950238	likely pathogenic	Retinitis pigmentosa	2021-04-01	criteria provided, single submitter	curation	The p.Leu849AlafsTer3 variant in CNGB1 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Fulgent Genetics, Fulgent Genetics	RCV001376356	SCV002802281	pathogenic	Retinitis pigmentosa 45	2021-10-29	criteria provided, single submitter	clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	RCV000225473	SCV000282621	likely pathogenic	Retinal dystrophy		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001064707	SCV001924296	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001064707	SCV001970769	pathogenic	not provided		no assertion criteria provided	clinical testing