ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.881C>G (p.Pro294Arg)

dbSNP: rs866454760
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001871062 SCV002140083 uncertain significance Peutz-Jeghers syndrome 2021-01-06 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 294 of the STK11 protein (p.Pro294Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt STK11 protein function. This variant has not been reported in the literature in individuals with STK11-related conditions. This variant is not present in population databases (ExAC no frequency).

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