ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1098_1101dup (p.Ala368Ter) (rs1057518098)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412821 SCV000491497 likely pathogenic not provided 2016-06-10 criteria provided, single submitter clinical testing The c.1098_1101dupTAAT variant in the CNGB3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1098_1101dupTAAT variant causes a frameshift, changing codon Asparagine 368 to a premature Stop codon, denoted p.Asn368Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1098_1101dupTAAT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret c.1098_1101dupTAAT as a likely pathogenic variant.
Invitae RCV000412821 SCV001218067 pathogenic not provided 2019-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala368*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CNGB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 372954). Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 28795510). For these reasons, this variant has been classified as Pathogenic.

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