Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000325405 | SCV000334074 | uncertain significance | not provided | 2018-03-12 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001074601 | SCV001240192 | pathogenic | Retinal dystrophy | 2019-01-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000325405 | SCV001398141 | pathogenic | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 282547). This missense change has been observed in individual(s) with clinical features of cone-rod dystrophy (PMID: 24903488; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs775332304, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 533 of the CNGA3 protein (p.Asp533His). |