ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.517C>T (p.Pro173Ser)

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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 RCV002816394 SCV003210163 uncertain significance Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 2023-04-05 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 2007681). 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 replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 120 of the PITX2 protein (p.Pro120Ser).

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