Submissions for variant NM_000455.5(STK11):c.363G>A (p.Glu121=)

dbSNP: rs864622574

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205084	SCV000261172	likely benign	Peutz-Jeghers syndrome	2024-01-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570726	SCV000664372	likely benign	Hereditary cancer-predisposing syndrome	2016-11-17	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.
Color Diagnostics, LLC DBA Color Health	RCV000570726	SCV001355793	likely benign	Hereditary cancer-predisposing syndrome	2019-06-05	criteria provided, single submitter	clinical testing
GeneDx	RCV002286718	SCV002577052	uncertain significance	not provided	2022-03-31	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge