ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.316G>T (p.Glu106Ter)

dbSNP: rs1051887
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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 RCV001922553 SCV002170539 pathogenic Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1398374). 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). This sequence change creates a premature translational stop signal (p.Glu53*) 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).

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