ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.807T>A (p.Cys269Ter)

dbSNP: rs1057519489
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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 RCV000416518 SCV000494274 pathogenic Axenfeld-Rieger syndrome type 1 no assertion criteria provided clinical testing Non-sense codon introduces premature terminating codon (PTC) effecting functional haploinufficiency; clinical significance consistent with PITX2 PTC variants found upstream and down stream of this position - each regarded as pathogenic in published literature.

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