Submissions for variant NM_000455.5(STK11):c.594C>T (p.Ala198=)

gnomAD frequency: 0.00001  dbSNP: rs772940660

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163103	SCV000213612	likely benign	Hereditary cancer-predisposing syndrome	2014-09-25	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.
Invitae	RCV000205659	SCV000260180	likely benign	Peutz-Jeghers syndrome	2024-01-26	criteria provided, single submitter	clinical testing
Counsyl	RCV000205659	SCV000489542	likely benign	Peutz-Jeghers syndrome	2016-10-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163103	SCV000686665	likely benign	Hereditary cancer-predisposing syndrome	2017-05-18	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000858927	SCV001134845	benign	not provided	2019-03-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001255568	SCV001432049	likely benign	not specified	2020-08-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000858927	SCV001890457	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000205659	SCV002057416	likely benign	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163103	SCV002531713	likely benign	Hereditary cancer-predisposing syndrome	2021-08-19	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000205659	SCV004017974	benign	Peutz-Jeghers syndrome	2023-04-13	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences	RCV003945261	SCV004760931	likely benign	STK11-related disorder	2024-02-19	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).