ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1597G>C (p.Asp533His)

dbSNP: rs775332304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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).

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