ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1321A>G (p.Met441Val)

dbSNP: rs1427967136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708942 SCV000838050 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV001861937 SCV002252256 uncertain significance Cowden syndrome 2021-06-29 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PIK3CA protein function. ClinVar contains an entry for this variant (Variation ID: 584653). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 441 of the PIK3CA protein (p.Met441Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine.

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