ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter)

dbSNP: rs1057519482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV000416528 SCV000494263 pathogenic Axenfeld-Rieger syndrome type 3 no assertion criteria provided clinical testing Non-sense codon introduces premature terminating codon (PTC) effecting functional haploinufficiency; clinical significance consistent with FOXC1 PTC variants found upstream and down stream of this position - each regarded as pathogenic in published literature.

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