ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.2893-7G>A

gnomAD frequency: 0.00003  dbSNP: rs749199721
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513315 SCV000608765 pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing CNGB1: PM3:Very Strong, PM2, PP3
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199469 SCV001162478 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Invitae RCV000513315 SCV002207755 pathogenic not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change falls in intron 28 of the CNGB1 gene. It does not directly change the encoded amino acid sequence of the CNGB1 protein. This variant is present in population databases (rs749199721, gnomAD 0.008%). This variant has been observed in individuals with inherited retinal dystrophy (PMID: 32037395, 33847019; Invitae). ClinVar contains an entry for this variant (Variation ID: 369953). 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000408898 SCV000484923 likely pathogenic Retinitis pigmentosa 45 no assertion criteria provided clinical testing

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