ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) (rs760430056)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064707 SCV001229622 pathogenic not provided 2020-03-17 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. This variant is present in population databases (rs760430056, ExAC 0.006%). This variant has been observed in individual(s) with inherited retinal disease (PMID: 26667666, 28056120, 26894784). ClinVar contains an entry for this variant (Variation ID: 236511). Loss-of-function variants in CNGB1 are known to be pathogenic (PMID: 15557452, 24043777). 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 Institute Rare Disease Group, Broad Institute 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.
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

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