ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.508C>G (p.Gln170Glu)

dbSNP: rs121913323
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793992 SCV000933374 uncertain significance Peutz-Jeghers syndrome 2020-04-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STK11-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 170 of the STK11 protein (p.Gln170Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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