ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.973A>G (p.Lys325Glu)

dbSNP: rs1203909224
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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 RCV003218686 SCV003910129 uncertain significance Inborn genetic diseases 2023-01-16 criteria provided, single submitter clinical testing The p.K325E variant (also known as c.973A>G), located in coding exon 4 of the PIK3CA gene, results from an A to G substitution at nucleotide position 973. The lysine at codon 325 is replaced by glutamic acid, an amino acid with 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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