ClinVar Miner

Submissions for variant NM_005029.4(PITX3):c.414G>T (p.Gly138=)

dbSNP: rs1554934124
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001363185 SCV001559286 uncertain significance not provided 2017-04-02 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PITX3-related disease. This sequence change affects codon 138 of the PITX3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PITX3 protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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