ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.432G>A (p.Pro144=)

gnomAD frequency: 0.00004  dbSNP: rs376788924
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162629 SCV000213064 likely benign Hereditary cancer-predisposing syndrome 2015-06-30 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.
Invitae RCV000196071 SCV000253255 likely benign Peutz-Jeghers syndrome 2024-01-09 criteria provided, single submitter clinical testing
Counsyl RCV000196071 SCV000489305 likely benign Peutz-Jeghers syndrome 2016-09-16 criteria provided, single submitter clinical testing
GeneDx RCV001711432 SCV000514794 likely benign not provided 2019-10-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162629 SCV000686646 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000431105 SCV001469916 benign not specified 2020-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000196071 SCV002057406 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162629 SCV002531696 likely benign Hereditary cancer-predisposing syndrome 2021-08-19 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000431105 SCV003928989 benign not specified 2023-04-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000196071 SCV004017957 benign Peutz-Jeghers syndrome 2023-04-13 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.
PreventionGenetics, part of Exact Sciences RCV003895085 SCV004726277 likely benign STK11-related disorder 2019-06-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000196071 SCV004816356 likely benign Peutz-Jeghers syndrome 2023-12-13 criteria provided, single submitter clinical testing

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