ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp)

dbSNP: rs1057519474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV000416542 SCV000494255 uncertain significance Axenfeld-Rieger syndrome type 3 2016-08-22 criteria provided, single submitter clinical testing
GeneDx RCV004721350 SCV005327732 uncertain significance not provided 2023-08-28 criteria provided, single submitter clinical testing Identified in a patient with congenital glaucoma in published literature (Siggs et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31836490, 30653210)

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