ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys)

gnomAD frequency: 0.00002  dbSNP: rs1377555853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074023 SCV001239590 likely pathogenic Retinal dystrophy 2018-10-30 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV001352956 SCV001548027 likely pathogenic Achromatopsia 2 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV001362275 SCV001558284 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 376 of the CNGA3 protein (p.Glu376Lys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individuals with clinical features of achromatopsia (PMID: 20506298, 33546218; Invitae). ClinVar contains an entry for this variant (Variation ID: 866210). 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 not expected to disrupt CNGA3 protein function. Experimental studies have shown that this missense change affects CNGA3 function (PMID: 20506298). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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