ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.173G>A (p.Gly58Asp)

dbSNP: rs2080672099
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036911 SCV001200299 uncertain significance Peutz-Jeghers syndrome 2019-12-29 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 58 of the STK11 protein (p.Gly58Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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