ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1115C>T (p.Pro372Leu)

dbSNP: rs2104246962
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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 RCV003771210 SCV004674358 pathogenic not provided 2023-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 372 of the CNGA3 protein (p.Pro372Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with achromatopsia (PMID: 35332618; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1064464). 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. This variant disrupts the p.Pro372 amino acid residue in CNGA3. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11536077, 20506298, 28559085, 29053603). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729866 SCV001571292 likely pathogenic Achromatopsia 2 2021-04-15 no assertion criteria provided research

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