Total submissions: 8
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 | |
Ce |
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, |
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, |
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, |
RCV000985209 | SCV001133237 | pathogenic | Achromatopsia 2 | 2019-09-26 | no assertion criteria provided | clinical testing |