ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1020C>T (p.Tyr340=)

gnomAD frequency: 0.00003  dbSNP: rs786202471
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165294 SCV000216012 likely benign Hereditary cancer-predisposing syndrome 2014-12-05 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 RCV000439591 SCV000526916 likely benign not specified 2016-04-12 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 RCV001474786 SCV001678962 likely benign Peutz-Jeghers syndrome 2022-05-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001474786 SCV004821429 likely benign Peutz-Jeghers syndrome 2023-04-28 criteria provided, single submitter clinical testing

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