ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.910A>G (p.Met304Val)

dbSNP: rs754602413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001302181 SCV001491379 uncertain significance Cowden syndrome 2022-05-21 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: 1005328). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This variant is present in population databases (rs754602413, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 304 of the PIK3CA protein (p.Met304Val).
Ambry Genetics RCV002375367 SCV002684193 uncertain significance Inborn genetic diseases 2022-04-04 criteria provided, single submitter clinical testing The p.M304V variant (also known as c.910A>G), located in coding exon 4 of the PIK3CA gene, results from an A to G substitution at nucleotide position 910. The methionine at codon 304 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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