ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.775A>G (p.Asn259Asp)

dbSNP: rs2080781890
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343441 SCV001537421 uncertain significance Peutz-Jeghers syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 259 of the STK11 protein (p.Asn259Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with STK11-related conditions. 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: "Probably 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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