ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.184-5T>G

dbSNP: rs1131692292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003766787 SCV004606057 pathogenic Aniridia 1; Irido-corneo-trabecular dysgenesis 2023-11-08 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the PAX6 gene. It does not directly change the encoded amino acid sequence of the PAX6 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with aniridia (PMID: 28321846; Invitae). ClinVar contains an entry for this variant (Variation ID: 430981). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 30315214). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics RCV000496014 SCV000584131 likely pathogenic Aniridia 1 no assertion criteria provided research

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