ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003074949 SCV003460070 pathogenic Aniridia 1; Irido-corneo-trabecular dysgenesis 2022-08-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg38 amino acid residue in PAX6. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29145603, 34415986). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 PAX6 protein function. This missense change has been observed in individual(s) with clinical features of autosomal dominant aniridia (PMID: 29914532, 31700164). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 38 of the PAX6 protein (p.Arg38Gln).
Molecular Medicine, University of Pavia RCV003491223 SCV004023260 likely pathogenic Irido-corneo-trabecular dysgenesis 2023-07-28 criteria provided, single submitter research
OMIM RCV003883472 SCV004697968 pathogenic Coloboma, ocular, autosomal dominant 2024-03-01 no assertion criteria provided literature only

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