ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter)

dbSNP: rs1578446544
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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 RCV000792252 SCV000931533 pathogenic Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 2018-07-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PITX2 gene (p.Tyr125*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 147 amino acids of the PITX2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PITX2-related disease. A different truncation (p.Trp133*) that lies downstream of this variant has been determined to be pathogenic (PMID: 8944018, 16498627). This suggests that deletion of this region of the PITX2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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