ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1171T>G (p.Cys391Gly)

dbSNP: rs1214125670
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001881739 SCV002148126 uncertain significance Peutz-Jeghers syndrome 2021-06-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with glycine at codon 391 of the STK11 protein (p.Cys391Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and glycine. This variant has not been reported in the literature in individuals with STK11-related conditions. 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.

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