ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.112C>A (p.Pro38Thr)

dbSNP: rs1060499954
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474390 SCV000541122 uncertain significance Peutz-Jeghers syndrome 2016-11-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a STK11-related disease. This sequence change replaces proline with threonine at codon 38 of the STK11 protein (p.Pro38Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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