ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.345T>C (p.Asp115=)

dbSNP: rs2145420737
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001506864 SCV001711802 likely benign Peutz-Jeghers syndrome 2022-04-23 criteria provided, single submitter clinical testing
GeneDx RCV001806214 SCV002050326 uncertain significance not provided 2021-06-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27535533)
Genome-Nilou Lab RCV001506864 SCV002057234 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334565 SCV002618648 likely benign Hereditary cancer-predisposing syndrome 2020-10-13 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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