ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.445C>T (p.Pro149Ser)

dbSNP: rs2080765884
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047030 SCV001210962 uncertain significance Peutz-Jeghers syndrome 2019-05-31 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 149 of the STK11 protein (p.Pro149Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with gastric polyps (Invitae). However, in that individual, pathogenic allele[s] were also identified in STK11, which suggests that this c.445C>T variant was not the primary cause of disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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