ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.71C>T (p.Thr24Met) (rs770503805)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472539 SCV000541139 uncertain significance Peutz-Jeghers syndrome 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 24 of the STK11 protein (p.Thr24Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs770503805, ExAC 0.002%). This variant has not been reported in the literature in individuals with STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 403777). 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: "Possibly Damaging"; 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.
Ambry Genetics RCV000568581 SCV000672318 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Color RCV000568581 SCV000686676 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-04 criteria provided, single submitter clinical testing

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