ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2633A>C (p.His878Pro)

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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 RCV004959846 SCV005468914 uncertain significance Inborn genetic diseases 2024-11-08 criteria provided, single submitter clinical testing The p.H878P variant (also known as c.2633A>C), located in coding exon 17 of the PIK3CA gene, results from an A to C substitution at nucleotide position 2633. The histidine at codon 878 is replaced by proline, 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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