ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.562C>T (p.Gln188Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721901 SCV005327323 pathogenic not provided 2024-03-15 criteria provided, single submitter clinical testing Identified in unrelated patients with aniridia referred for genetic testing at GeneDx and in published literature (PMID: 16785853); 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 in large population cohorts (gnomAD); Also known as c.562C>T, p.(Q188X); This variant is associated with the following publications: (PMID: 25525159, 16785853)

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