ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2371G>T (p.Glu791Ter) (rs1060500030)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477364 SCV000541317 uncertain significance Cowden syndrome 2016-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 791 (p.Glu791*) of the PIK3CA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PIK3CA-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PIK3CA cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.

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