ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.542A>G (p.Asn181Ser) (rs886037859)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital RCV000241351 SCV000298003 likely pathogenic Peutz-Jeghers syndrome 2016-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492112 SCV000580896 pathogenic Hereditary cancer-predisposing syndrome 2017-12-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Well-characterized mutation at same position,Structural Evidence
Invitae RCV000241351 SCV000754014 pathogenic Peutz-Jeghers syndrome 2018-03-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 181 of the STK11 protein (p.Asn181Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual with features consistent with Peutz-Jeghers syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 254654). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Color RCV000492112 SCV000905234 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-20 criteria provided, single submitter clinical testing

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