ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=)

gnomAD frequency: 0.00022  dbSNP: rs1131681
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086660 SCV000294323 likely benign Cowden syndrome 2023-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658981 SCV000780784 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PIK3CA: BP4, BP7
Ambry Genetics RCV002411077 SCV002716520 likely benign Inborn genetic diseases 2022-02-15 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316315 SCV004016571 likely benign Cowden syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535202 SCV004727955 likely benign PIK3CA-related disorder 2023-02-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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