ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.985G>A (p.Val329Ile)

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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 RCV004959813 SCV005468876 uncertain significance Inborn genetic diseases 2024-07-13 criteria provided, single submitter clinical testing The p.V329I variant (also known as c.985G>A), located in coding exon 4 of the PIK3CA gene, results from a G to A substitution at nucleotide position 985. The valine at codon 329 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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