ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.109del (p.Ala37fs)

dbSNP: rs1057517780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414410 SCV000490688 pathogenic not provided 2023-06-27 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.468delG; This variant is associated with the following publications: (PMID: 11479730, 20132240, 37337769, 36140798)
Labcorp Genetics (formerly Invitae), Labcorp RCV001215069 SCV001386790 pathogenic Aniridia 1; Irido-corneo-trabecular dysgenesis 2019-06-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PAX6 are known to be pathogenic (PMID: 12634864). This variant has been observed in individuals affected with anirdia (PMID: 11479730, 21423868). This variant is also known as 468delG in the literature. ClinVar contains an entry for this variant (Variation ID: 372438). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala37Profs*17) in the PAX6 gene. It is expected to result in an absent or disrupted protein product.

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