ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1615G>A (p.Val539Met)

gnomAD frequency: 0.00002  dbSNP: rs374275399
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001729901 SCV002775345 uncertain significance Achromatopsia 2 2022-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002550195 SCV002940659 uncertain significance not provided 2022-09-27 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: 1064501). This variant has not been reported in the literature in individuals affected with CNGA3-related conditions. This variant is present in population databases (rs374275399, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 539 of the CNGA3 protein (p.Val539Met).
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729901 SCV001571314 uncertain significance Achromatopsia 2 2021-04-15 no assertion criteria provided research

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