ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.725G>A (p.Gly242Glu) (rs1568708382)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759359 SCV000888645 uncertain significance not provided 2018-04-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780764 SCV000918281 likely pathogenic Peutz-Jeghers syndrome 2017-10-20 criteria provided, single submitter clinical testing Variant summary: The STK11 c.725G>A (p.Gly242Glu) variant causes a missense change located in the Protein kinase domain (IPR000719) (InterPro) involving the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent in 238656 control chromosomes in gnomAD. This variant was found in multiple PeutzJeghers syndrome patients (Wang_2014, Lim_2003, Resta_2013). In addition, the variant has not been cited by any reputable databases/clinical laboratories. Taken together, this variant is classified as Likely Pathogenic, until more clinical and functional data become available.

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