Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
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] |