Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000360125 | SCV000330023 | pathogenic | not provided | 2017-11-21 | criteria provided, single submitter | clinical testing | The c.3150delG pathogenic variant in the CNGB1 gene has been reported previously in the compound heterozygous state in a Hispanic female with retinitis pigmentosa (Nishiguchi et al., 2013). The c.3150delG variant causes a frameshift starting with codon Phenylalanine 1051, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Phe1051LeufsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3150delG variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.3150delG as a pathogenic variant. |
| Labcorp Genetics |
RCV000360125 | SCV001221515 | pathogenic | not provided | 2024-12-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe1051Leufs*12) 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 (rs753353134, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 24043777, 29202463). It has also been observed to segregate with disease in related individuals. This variant is also known as p.G1050fs. ClinVar contains an entry for this variant (Variation ID: 280141). For these reasons, this variant has been classified as Pathogenic. |
| Blueprint Genetics | RCV001074987 | SCV001240596 | pathogenic | Retinal dystrophy | 2017-12-15 | criteria provided, single submitter | clinical testing | |
| Ocular Genomics Institute, |
RCV001376210 | SCV001573270 | pathogenic | Retinitis pigmentosa 45 | 2021-04-08 | criteria provided, single submitter | research | The CNGB1 c.3150del 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, PP1. Based on this evidence we have classified this variant as Pathogenic. |
| Fulgent Genetics, |
RCV001376210 | SCV005640249 | pathogenic | Retinitis pigmentosa 45 | 2024-04-09 | criteria provided, single submitter | clinical testing |