ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.396C>T (p.Cys132=)

gnomAD frequency: 0.00001  dbSNP: rs730881969
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163260 SCV000213788 likely benign Hereditary cancer-predisposing syndrome 2015-05-24 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.
Invitae RCV000204600 SCV000259742 likely benign Peutz-Jeghers syndrome 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000434058 SCV000520552 likely benign not specified 2015-11-05 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.
Color Diagnostics, LLC DBA Color Health RCV000163260 SCV000691499 likely benign Hereditary cancer-predisposing syndrome 2015-08-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000434058 SCV000918289 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163260 SCV002531689 likely benign Hereditary cancer-predisposing syndrome 2020-07-02 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000204600 SCV004816350 likely benign Peutz-Jeghers syndrome 2023-08-15 criteria provided, single submitter clinical testing

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