ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.841C>T (p.Pro281Ser)

dbSNP: rs377208033
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529632 SCV000629148 uncertain significance Peutz-Jeghers syndrome 2019-01-08 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 281 of the STK11 protein (p.Pro281Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. 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. 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. This variant has not been reported in the literature in individuals with STK11-related conditions. ClinVar contains an entry for this variant (Variation ID: 458067). This variant is not present in population databases (ExAC no frequency).

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