ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs)

dbSNP: rs756806434
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074556 SCV001240147 pathogenic Retinal dystrophy 2018-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001213897 SCV001385550 pathogenic not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1048Glyfs*13) 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 (rs756806434, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 28056120). ClinVar contains an entry for this variant (Variation ID: 437975). For these reasons, this variant has been classified as Pathogenic.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000504810 SCV001950242 likely pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Ala1048GlyfsTer13 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.
GeneDx RCV001213897 SCV005331822 pathogenic not provided 2024-03-27 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: 34426522, 32531858, 28041643, 34906470, 31980526, 32967234, 28056120, 33847019)
Fulgent Genetics, Fulgent Genetics RCV005010443 SCV005640251 pathogenic Retinitis pigmentosa 45 2024-04-23 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504810 SCV000598715 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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