ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.2011G>T (p.Glu671Ter)

gnomAD frequency: 0.00001  dbSNP: rs761969118
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071877 SCV001237207 pathogenic not provided 2024-07-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu671*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 28795510). This variant is present in population databases (rs761969118, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CNGB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 864643). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813722 SCV005068519 pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047287 SCV005679198 likely pathogenic Achromatopsia 3 2024-02-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733147 SCV005348970 pathogenic CNGB3-related disorder 2024-09-09 no assertion criteria provided clinical testing The CNGB3 c.2011G>T variant is predicted to result in premature protein termination (p.Glu671*). To our knowledge, this variant has not been reported in the literature in association with disease. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in CNGB3 are an established mechanism of disease. This variant is interpreted as pathogenic.

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