ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2449A>G (p.Ile817Val)

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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 RCV004648250 SCV005153732 uncertain significance Inborn genetic diseases 2024-06-18 criteria provided, single submitter clinical testing The p.I817V variant (also known as c.2449A>G), located in coding exon 16 of the PIK3CA gene, results from an A to G substitution at nucleotide position 2449. The isoleucine at codon 817 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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