ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1658T>A (p.Leu553Gln)

gnomAD frequency: 0.00002  dbSNP: rs745779023
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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 RCV001865863 SCV002294460 uncertain significance not provided 2023-10-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 553 of the CNGA3 protein (p.Leu553Gln). This variant is present in population databases (rs745779023, gnomAD 0.007%). This missense change has been observed in individual(s) with achromatopsia (PMID: 35332618). ClinVar contains an entry for this variant (Variation ID: 1064472). 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. 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.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729873 SCV001571305 likely pathogenic Achromatopsia 2 2021-04-15 no assertion criteria provided research

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