ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.900C>G (p.Asp300Glu)

dbSNP: rs2108392826
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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 RCV002376377 SCV002684090 uncertain significance Inborn genetic diseases 2022-02-12 criteria provided, single submitter clinical testing The p.D300E variant (also known as c.900C>G), located in coding exon 4 of the PIK3CA gene, results from a C to G substitution at nucleotide position 900. The aspartic acid at codon 300 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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