ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.830G>A (p.Arg277His)

gnomAD frequency: 0.00002  dbSNP: rs778114016
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073764 SCV001239324 pathogenic Retinal dystrophy 2017-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092741 SCV001249383 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Invitae RCV001092741 SCV001375566 pathogenic not provided 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 277 of the CNGA3 protein (p.Arg277His). This variant is present in population databases (rs778114016, gnomAD 0.006%). This missense change has been observed in individuals with achromatopsia or cone-rod dystrophy (PMID: 11536077, 23972307, 26992781). ClinVar contains an entry for this variant (Variation ID: 800983). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CNGA3 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects CNGA3 function (PMID: 17693388). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001092741 SCV001448005 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000985209 SCV002579126 pathogenic Achromatopsia 2 2022-07-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000985209 SCV003821249 pathogenic Achromatopsia 2 2022-12-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000985209 SCV004041325 pathogenic Achromatopsia 2 2023-07-08 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985209 SCV001133237 pathogenic Achromatopsia 2 2019-09-26 no assertion criteria provided clinical testing

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