ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.447A>G (p.Pro149=)

gnomAD frequency: 0.00001  dbSNP: rs587780718
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123061 SCV000166356 likely benign Peutz-Jeghers syndrome 2023-11-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771625 SCV000904233 likely benign Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000123061 SCV002057793 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771625 SCV002636955 likely benign Hereditary cancer-predisposing syndrome 2019-10-03 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.

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