ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.720del (p.Glu242fs)

dbSNP: rs2134654635
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388581 SCV001589633 pathogenic Aniridia 1; Irido-corneo-trabecular dysgenesis 2020-03-02 criteria provided, single submitter clinical testing Loss-of-function variants in PAX6 are known to be pathogenic (PMID: 12634864). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PAX6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu228Serfs*16) in the PAX6 gene. It is expected to result in an absent or disrupted protein product.

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