ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)

gnomAD frequency: 0.00001  dbSNP: rs769095184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001103658 SCV001260450 uncertain significance Anophthalmia-microphthalmia syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001103659 SCV001260451 uncertain significance Autosomal dominant keratitis 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856403 SCV002235081 pathogenic Aniridia 1; Irido-corneo-trabecular dysgenesis 2022-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). ClinVar contains an entry for this variant (Variation ID: 877705). This missense change has been observed in individual(s) with aniridia (PMID: 31161946). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs769095184, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 92 of the PAX6 protein (p.Arg92Gln).

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