ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2888T>C (p.Val963Ala)

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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 RCV004648247 SCV005153728 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The p.V963A variant (also known as c.2888T>C), located in coding exon 19 of the PIK3CA gene, results from a T to C substitution at nucleotide position 2888. The valine at codon 963 is replaced by alanine, 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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