ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2366T>C (p.Met789Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004959814 SCV005468877 uncertain significance Inborn genetic diseases 2024-07-15 criteria provided, single submitter clinical testing The p.M789T variant (also known as c.2366T>C), located in coding exon 15 of the PIK3CA gene, results from a T to C substitution at nucleotide position 2366. The methionine at codon 789 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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