Submissions for variant NM_001382430.1(AKT1):c.1194C>T (p.Asp398=)

gnomAD frequency: 0.00004  dbSNP: rs151254374

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000542011	SCV000653500	likely benign	Cowden syndrome 6	2023-10-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000136	SCV001156586	likely benign	not specified	2019-03-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341444	SCV002641321	likely benign	Inborn genetic diseases	2022-02-12	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	RCV000542011	SCV004017021	likely benign	Cowden syndrome 6	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935508	SCV004752221	likely benign	AKT1-related disorder	2019-02-26	no assertion criteria provided	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).