ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1217T>C (p.Met406Thr)

dbSNP: rs1553450734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000593624 SCV000700222 pathogenic Achromatopsia 2018-03-20 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001048868 SCV001212893 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CNGA3 function (PMID: 17693388). 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: 503562). This missense change has been observed in individual(s) with achromatopsia (PMID: 11536077). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 406 of the CNGA3 protein (p.Met406Thr).

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