ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.852+4010_903+1699dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001293009 SCV001481173 pathogenic Achromatopsia 3 criteria provided, single submitter clinical testing This variant represents a duplication of exon 7 in the CNGB3 gene. Similar of exon 7 has been reported previously in the literature in compound heterozygous state with another (likely) pathogenic CNGB3 variant (Mayer et al. 2017). The variant is rare or absent in the general populations (SGV, gnomAD) and is anticipated to result in the shift of the reading frame of the CNGB3 protein [PVS,PM2, PS4_SUP]

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