ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.945G>A (p.Pro315=) (rs376329042)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000756723 SCV000166363 benign not provided 2019-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000213027 SCV000171893 benign not specified 2013-11-01 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 RCV000128301 SCV000213093 likely benign Hereditary cancer-predisposing syndrome 2014-06-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000213027 SCV000602245 benign not specified 2017-06-16 criteria provided, single submitter clinical testing
Color RCV000128301 SCV000686707 likely benign Hereditary cancer-predisposing syndrome 2015-06-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756723 SCV000884615 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing The p.Pro315Pro variant (rs376329042) does not alter the amino acid sequence of the STK11 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with hereditary cancer in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.5 percent in the Ashkenazi Jewish population (identified on 48 out of 8,990 chromosomes) and has been reported to the ClinVar database with a benign/likely benign classification (Variation ID: 135929). Based on these observations, the p.Pro315Pro variant is likely to be benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000756723 SCV000888650 benign not provided 2017-06-16 criteria provided, single submitter clinical testing
Mendelics RCV000990133 SCV001140945 likely benign Peutz-Jeghers syndrome 2019-05-28 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000213027 SCV000692053 likely benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000128301 SCV000788221 likely benign Hereditary cancer-predisposing syndrome 2017-12-01 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.