ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1061A>G (p.Tyr354Cys)

gnomAD frequency: 0.00001  dbSNP: rs760524816
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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 RCV001871959 SCV002284410 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: 1064500). This missense change has been observed in individual(s) with achromatopsia (PMID: 35332618). This variant is present in population databases (rs760524816, gnomAD 0.004%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 354 of the CNGA3 protein (p.Tyr354Cys).
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729900 SCV001571289 likely pathogenic Achromatopsia 2 2021-04-15 no assertion criteria provided research

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