ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.771G>A (p.Gly257=)

gnomAD frequency: 0.00002  dbSNP: rs777998890
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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 RCV000163741 SCV000214317 likely benign Hereditary cancer-predisposing syndrome 2016-06-21 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.
GeneDx RCV000436633 SCV000531195 likely benign not specified 2016-08-22 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.
Invitae RCV000459224 SCV000554139 likely benign Peutz-Jeghers syndrome 2023-09-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163741 SCV000686689 likely benign Hereditary cancer-predisposing syndrome 2015-06-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163741 SCV002526935 likely benign Hereditary cancer-predisposing syndrome 2022-02-04 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477599 SCV004221291 likely benign not provided 2023-02-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000459224 SCV004818905 likely benign Peutz-Jeghers syndrome 2023-09-18 criteria provided, single submitter clinical testing

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