ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1190C>G (p.Pro397Arg)

dbSNP: rs2108399239
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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 RCV003360917 SCV004055842 uncertain significance Inborn genetic diseases 2023-08-11 criteria provided, single submitter clinical testing The p.P397R variant (also known as c.1190C>G), located in coding exon 6 of the PIK3CA gene, results from a C to G substitution at nucleotide position 1190. The proline at codon 397 is replaced by arginine, 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.

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