ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)

gnomAD frequency: 0.00001  dbSNP: rs781227859
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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 RCV001238057 SCV001410852 pathogenic not provided 2024-02-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 548 of the CNGA3 protein (p.Gly548Arg). This variant is present in population databases (rs781227859, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of achromatopsia (PMID: 14757870, 24148654, 25616768, 25637600, 28159970). 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: 812283). 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%. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003329356 SCV004036170 pathogenic Achromatopsia 2 2023-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003329356 SCV005663342 pathogenic Achromatopsia 2 2024-01-23 criteria provided, single submitter clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002971 SCV001161019 likely pathogenic Achromatopsia 2019-06-23 no assertion criteria provided research

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