ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1175A>G (p.Tyr392Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003061629 SCV003461954 uncertain significance Cowden syndrome 2022-10-12 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PIK3CA protein function. This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This variant is present in population databases (rs751673551, gnomAD 0.007%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 392 of the PIK3CA protein (p.Tyr392Cys).

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