ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1034A>G (p.His345Arg)

gnomAD frequency: 0.00011  dbSNP: rs780411290
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000274963 SCV000345683 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764450 SCV000895512 uncertain significance Achromatopsia 2 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000274963 SCV001228428 pathogenic not provided 2023-08-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 345 of the CNGA3 protein (p.His345Arg). This variant is present in population databases (rs780411290, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of CNGA3-related conditions (Invitae). 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: 291008). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CNGA3 protein function. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000274963 SCV002102604 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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