ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.932T>G (p.Ile311Ser)

dbSNP: rs2108392942
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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 RCV002371638 SCV002685435 uncertain significance Inborn genetic diseases 2022-09-13 criteria provided, single submitter clinical testing The p.I311S variant (also known as c.932T>G), located in coding exon 4 of the PIK3CA gene, results from a T to G substitution at nucleotide position 932. The isoleucine at codon 311 is replaced by serine, 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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