ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.631C>T (p.Arg211Trp) (rs185087320)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163543 SCV000214101 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000204629 SCV000260842 uncertain significance Peutz-Jeghers syndrome 2018-12-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 211 of the STK11 protein (p.Arg211Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs185087320, ExAC 0.006%). This variant has not been reported in the literature in individuals with a STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 184313). 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: "Benign"; Align-GVGD: "Class C15"). In summary, this variant has uncertain impact on STK11 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000163543 SCV000292213 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing
Counsyl RCV000204629 SCV000487792 uncertain significance Peutz-Jeghers syndrome 2015-12-04 criteria provided, single submitter clinical testing

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