Submissions for variant NM_000455.5(STK11):c.1044C>T (p.Asp348=)

gnomAD frequency: 0.00004  dbSNP: rs778274196

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000165486	SCV000216217	likely benign	Hereditary cancer-predisposing syndrome	2014-12-19	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000200651	SCV000253243	likely benign	Peutz-Jeghers syndrome	2025-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001535424	SCV000518138	likely benign	not provided	2021-05-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000165486	SCV000686580	likely benign	Hereditary cancer-predisposing syndrome	2017-04-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000421041	SCV000920270	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000165486	SCV002531624	likely benign	Hereditary cancer-predisposing syndrome	2021-03-14	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001535424	SCV004139042	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	STK11: BP4, BP7
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003491899	SCV004239712	likely benign	Breast and/or ovarian cancer	2023-01-27	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000200651	SCV004818968	likely benign	Peutz-Jeghers syndrome	2023-10-27	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000200651	SCV005881338	benign	Peutz-Jeghers syndrome	2025-02-01	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000200651	SCV005915856	likely benign	Peutz-Jeghers syndrome	2021-04-30	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000200651	SCV006096368	benign	Peutz-Jeghers syndrome	2025-03-28	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	RCV003927550	SCV004741227	likely benign	STK11-related disorder	2019-03-26	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).