ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1004_1005del (p.Arg335fs)

dbSNP: rs1553821123
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631210 SCV000752224 uncertain significance Cowden syndrome 2017-09-12 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PIK3CA cause disease. This variant has not been reported in the literature in individuals with PIK3CA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg335Asnfs*17) in the PIK3CA gene. It is expected to result in an absent or disrupted protein product.

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