ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.52A>C (p.Met18Leu)

dbSNP: rs587782318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131221 SCV000186173 uncertain significance Hereditary cancer-predisposing syndrome 2013-04-10 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV000541150 SCV000629123 uncertain significance Peutz-Jeghers syndrome 2017-04-07 criteria provided, single submitter clinical testing 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect 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. 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: 142223). This sequence change replaces methionine with leucine at codon 18 of the STK11 protein (p.Met18Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine.
Genome-Nilou Lab RCV000541150 SCV002057721 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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