ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.91A>C (p.Ile31Leu)

dbSNP: rs1724335079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066888 SCV001231911 uncertain significance Cowden syndrome 2021-04-10 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PIK3CA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with leucine at codon 31 of the PIK3CA protein (p.Ile31Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine.
Ambry Genetics RCV002374978 SCV002688109 uncertain significance Inborn genetic diseases 2021-08-29 criteria provided, single submitter clinical testing The p.I31L variant (also known as c.91A>C), located in coding exon 1 of the PIK3CA gene, results from an A to C substitution at nucleotide position 91. The isoleucine at codon 31 is replaced by leucine, 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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