Submissions for variant NM_000455.5(STK11):c.318G>T (p.Arg106=)

dbSNP: rs777784520

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000223178	SCV000277436	likely benign	Hereditary cancer-predisposing syndrome	2015-07-24	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	RCV000223178	SCV000686633	likely benign	Hereditary cancer-predisposing syndrome	2016-05-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000611475	SCV000722837	likely benign	not specified	2017-09-14	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000611475	SCV000918292	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Invitae	RCV000932561	SCV001078245	likely benign	Peutz-Jeghers syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477753	SCV004221278	uncertain significance	not provided	2022-12-19	criteria provided, single submitter	clinical testing	To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000004 (1/249166 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect STK11 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003491983	SCV004239719	likely benign	Breast and/or ovarian cancer	2022-10-06	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000932561	SCV004816341	likely benign	Peutz-Jeghers syndrome	2024-01-03	criteria provided, single submitter	clinical testing