ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.250G>T (p.Glu84Ter)

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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 RCV003809956 SCV004607809 pathogenic Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 2023-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu31*) in the PITX2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PITX2 are known to be pathogenic (PMID: 19513095, 20881294). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PITX2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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