Submissions for variant NM_001382430.1(AKT1):c.1122C>T (p.Pro374=)

gnomAD frequency: 0.00004  dbSNP: rs374865919

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000866850	SCV001008002	likely benign	Cowden syndrome 6	2023-11-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002434094	SCV002750089	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.
CeGaT Center for Human Genetics Tuebingen	RCV003396510	SCV004135307	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	AKT1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004745624	SCV005367316	likely benign	AKT1-related disorder	2019-08-13	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).