ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1247A>G (p.Lys416Arg)

gnomAD frequency: 0.00001  dbSNP: rs1446554442
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804493 SCV000944404 likely benign Peutz-Jeghers syndrome 2024-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010536 SCV001170752 likely benign Hereditary cancer-predisposing syndrome 2023-03-21 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284240 SCV001469912 uncertain significance not provided 2020-07-24 criteria provided, single submitter clinical testing
GeneDx RCV001284240 SCV001802874 uncertain significance not provided 2021-06-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Genome-Nilou Lab RCV000804493 SCV002057988 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000804493 SCV004827303 uncertain significance Peutz-Jeghers syndrome 2023-08-15 criteria provided, single submitter clinical testing

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