ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.312G>C (p.Arg104Ser) (rs780749732)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206610 SCV000261060 uncertain significance Peutz-Jeghers syndrome 2017-04-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 104 of the STK11 protein (p.Arg104Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 220485). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000563750 SCV000664345 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760081 SCV000889856 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing

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