ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2696G>T (p.Arg899Leu)

dbSNP: rs1725176691
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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 RCV003182889 SCV003869911 uncertain significance Inborn genetic diseases 2022-11-06 criteria provided, single submitter clinical testing The p.R899L variant (also known as c.2696G>T), located in coding exon 18 of the PIK3CA gene, results from a G to T substitution at nucleotide position 2696. The arginine at codon 899 is replaced by leucine, an amino acid with dissimilar 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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