ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2296C>A (p.Leu766Ile)

dbSNP: rs1485993106
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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 RCV003182891 SCV003869913 uncertain significance Inborn genetic diseases 2022-11-06 criteria provided, single submitter clinical testing The p.L766I variant (also known as c.2296C>A), located in coding exon 15 of the PIK3CA gene, results from a C to A substitution at nucleotide position 2296. The leucine at codon 766 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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