ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1193G>C (p.Arg398Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002344194 SCV002646529 uncertain significance Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing The p.R398P variant (also known as c.1193G>C), located in coding exon 6 of the PIK3CA gene, results from a G to C substitution at nucleotide position 1193. The arginine at codon 398 is replaced by proline, an amino acid with dissimilar 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.
Invitae RCV003753236 SCV004472233 uncertain significance Cowden syndrome 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 398 of the PIK3CA protein (p.Arg398Pro). 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. ClinVar contains an entry for this variant (Variation ID: 1745488). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PIK3CA protein function. 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.

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