ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1537G>A (p.Gly513Arg)

gnomAD frequency: 0.00001  dbSNP: rs764918448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365786 SCV001562068 likely pathogenic not provided 2022-02-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Gly513 amino acid residue in CNGA3. Other variant(s) that disrupt this residue have been observed in individuals with CNGA3-related conditions (PMID: 11536077), which suggests that this may be a clinically significant amino acid residue. 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: 1056891). This missense change has been observed in individuals with clinical features of achromatopsia and/or cone-rod dystrophy (PMID: 26992781; Invitae). This variant is present in population databases (rs764918448, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 513 of the CNGA3 protein (p.Gly513Arg).
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729857 SCV001571303 likely pathogenic Achromatopsia 2 2021-04-15 no assertion criteria provided research

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