ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1512A>T (p.Ala504=)

gnomAD frequency: 0.00001  dbSNP: rs201108344
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248169 SCV000311437 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001488790 SCV001693315 likely benign Cowden syndrome 2023-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392765 SCV002709790 likely benign Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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