ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.147C>T (p.Tyr49=)

gnomAD frequency: 0.00001  dbSNP: rs751949296
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001501265 SCV001706072 likely benign Peutz-Jeghers syndrome 2021-10-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525031 SCV001735027 likely benign Hereditary cancer-predisposing syndrome 2020-11-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815571 SCV002063696 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001525031 SCV003881744 likely benign Hereditary cancer-predisposing syndrome 2022-11-05 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.

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