ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.998G>A (p.Arg333His) (rs587782267)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131004 SCV000185930 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000206257 SCV000260486 uncertain significance Peutz-Jeghers syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 333 of the STK11 protein (p.Arg333His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. 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: 142148). 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. It has been classified as a Variant of Uncertain Significance.

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