Submissions for variant NM_000455.5(STK11):c.120C>T (p.Arg40=)

dbSNP: rs878853984

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000232514	SCV000284851	likely benign	Peutz-Jeghers syndrome	2023-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000482947	SCV000565594	likely benign	not specified	2015-02-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000571116	SCV000672321	likely benign	Hereditary cancer-predisposing syndrome	2016-07-23	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.
Counsyl	RCV000232514	SCV000786285	likely benign	Peutz-Jeghers syndrome	2018-04-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000232514	SCV002057228	uncertain significance	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000232514	SCV004017928	benign	Peutz-Jeghers syndrome	2023-04-12	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.