ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.720G>A (p.Ser240=)

gnomAD frequency: 0.00001  dbSNP: rs759743897
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163194 SCV000213715 likely benign Hereditary cancer-predisposing syndrome 2015-07-13 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 RCV000196370 SCV000253261 likely benign Peutz-Jeghers syndrome 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000439077 SCV000516866 likely benign not specified 2015-11-18 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 RCV000163194 SCV000904235 likely benign Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000439077 SCV001363625 likely benign not specified 2019-06-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163194 SCV002531727 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-07 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477588 SCV004221289 likely benign not provided 2022-12-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000196370 SCV004818890 likely benign Peutz-Jeghers syndrome 2023-11-30 criteria provided, single submitter clinical testing

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