ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1151G>A (p.Arg384Gln) (rs371102112)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131727 SCV000186767 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000465830 SCV000541164 uncertain significance Peutz-Jeghers syndrome 2018-11-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 384 of the STK11 protein (p.Arg384Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs371102112, ExAC 0.007%). This variant has not been reported in the literature in individuals with STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 142537). 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 and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000131727 SCV000686597 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-03 criteria provided, single submitter clinical testing
Counsyl RCV000465830 SCV000785798 uncertain significance Peutz-Jeghers syndrome 2017-12-08 criteria provided, single submitter clinical testing

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