ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1021T>C (p.Ser341Pro)

gnomAD frequency: 0.00001  dbSNP: rs1227761587
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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 RCV001074652 SCV001240244 pathogenic Retinal dystrophy 2019-02-21 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001683732 SCV001905567 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683732 SCV002165328 pathogenic not provided 2024-05-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 341 of the CNGA3 protein (p.Ser341Pro). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with achromatopsia (PMID: 11536077, 15712225, 20506298). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 866559). 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, 20506298). For these reasons, this variant has been classified as Pathogenic.

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