ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2696G>A (p.Arg899His)

dbSNP: rs1725176691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029037 SCV002290766 uncertain significance Cowden syndrome 2021-12-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 899 of the PIK3CA protein (p.Arg899His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PIK3CA protein function.
Ambry Genetics RCV002425404 SCV002742700 uncertain significance Inborn genetic diseases 2021-08-05 criteria provided, single submitter clinical testing The p.R899H variant (also known as c.2696G>A), located in coding exon 18 of the PIK3CA gene, results from a G to A substitution at nucleotide position 2696. The arginine at codon 899 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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