Submissions for variant NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys)

dbSNP: rs1558820134

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001268815	SCV001448004	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001268815	SCV003524670	pathogenic	not provided	2022-09-07	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 329 of the CNGA3 protein (p.Gly329Cys). 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: 635157). This missense change has been observed in individuals with CNGA3-related conditions (PMID: 21778272, 30682209, 30711023, 31456290; Invitae). This variant is not present in population databases (gnomAD no frequency).
Molecular Genetics Laboratory, Institute for Ophthalmic Research	RCV000786010	SCV000924650	pathogenic	Achromatopsia	2017-12-13	no assertion criteria provided	research
Sharon lab, Hadassah-Hebrew University Medical Center	RCV000786010	SCV001161011	pathogenic	Achromatopsia	2019-06-23	no assertion criteria provided	research