ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1031T>C (p.Leu344Pro) (rs864622118)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204257 SCV000259384 uncertain significance Peutz-Jeghers syndrome 2018-03-12 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 344 of the STK11 protein (p.Leu344Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 219493). 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. 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 RCV000570906 SCV000672344 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000570906 SCV000691462 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-09 criteria provided, single submitter clinical testing

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