ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.264del (p.Lys89fs)

dbSNP: rs1729007624
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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 RCV001039241 SCV001202761 pathogenic Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 2022-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PITX2 protein in which other variant(s) (p.Trp133*) have been determined to be pathogenic (PMID: 8944018, 16498627, 22569110). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 837823). 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.Lys36Argfs*119) in the PITX2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 236 amino acid(s) of the PITX2 protein.

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