ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.663G>A (p.Pro221=)

dbSNP: rs587780720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123064 SCV000166359 likely benign Peutz-Jeghers syndrome 2022-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000444505 SCV000516935 likely benign not specified 2016-03-23 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.
Ambry Genetics RCV000574957 SCV000664307 likely benign Hereditary cancer-predisposing syndrome 2016-09-09 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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