Submissions for variant NM_000455.5(STK11):c.1174A>G (p.Met392Val)

gnomAD frequency: 0.00001  dbSNP: rs565993396

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199162	SCV000254542	likely benign	Peutz-Jeghers syndrome	2025-01-22	criteria provided, single submitter	clinical testing
Counsyl	RCV000199162	SCV000786562	uncertain significance	Peutz-Jeghers syndrome	2018-05-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776534	SCV000912132	likely benign	Hereditary cancer-predisposing syndrome	2020-04-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000776534	SCV001170279	likely benign	Hereditary cancer-predisposing syndrome	2018-07-11	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.
GeneDx	RCV001778787	SCV002015597	uncertain significance	not provided	2023-10-26	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28900777)
Genome-Nilou Lab	RCV000199162	SCV002057317	uncertain significance	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000776534	SCV002531650	benign	Hereditary cancer-predisposing syndrome	2020-10-19	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000199162	SCV004017942	uncertain significance	Peutz-Jeghers syndrome	2023-04-12	criteria provided, single submitter	clinical testing	This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
All of Us Research Program, National Institutes of Health	RCV000199162	SCV004819003	likely benign	Peutz-Jeghers syndrome	2023-05-16	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000199162	SCV005915869	likely benign	Peutz-Jeghers syndrome	2023-07-10	criteria provided, single submitter	clinical testing