ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.1198A>G (p.Met400Val)

dbSNP: rs1230504203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336773 SCV001530259 uncertain significance Coloboma of optic nerve 2018-03-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546794 SCV003287800 uncertain significance Aniridia 1; Irido-corneo-trabecular dysgenesis 2023-05-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PAX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1034147). 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 not expected to disrupt PAX6 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. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 386 of the PAX6 protein (p.Met386Val). This variant is present in population databases (no rsID available, gnomAD 0.003%).

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