ClinVar Miner

Submissions for variant NM_005029.4(PITX3):c.388A>T (p.Lys130Ter) (rs1564991469)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707292 SCV000836382 uncertain significance Anterior segment mesenchymal dysgenesis; Cataract 11 2018-06-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PITX3 gene (p.Lys130*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 173 amino acids of the PITX3 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PITX3-related disease. 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.

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