ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)

dbSNP: rs121907924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481122 SCV000568742 pathogenic not provided 2023-05-11 criteria provided, single submitter clinical testing Nonsense 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); This variant is associated with the following publications: (PMID: 25525159, 36816037, 28488383, 12721955)
Labcorp Genetics (formerly Invitae), Labcorp RCV001246978 SCV001420373 pathogenic Aniridia 1; Irido-corneo-trabecular dysgenesis 2019-11-15 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 individual(s) with aniridia or optic nerve hypoplasia (PMID: 28488383, 12721955). ClinVar contains an entry for this variant (Variation ID: 3476). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln205*) in the PAX6 gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000003644 SCV000023807 pathogenic Isolated optic nerve hypoplasia 2003-06-01 no assertion criteria provided literature only

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