ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1016C>G (p.Pro339Arg)

dbSNP: rs567896256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472320 SCV000541119 uncertain significance Peutz-Jeghers syndrome 2016-12-09 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a STK11-related disease. This sequence change replaces proline with arginine at codon 339 of the STK11 protein (p.Pro339Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine.
Ambry Genetics RCV000573350 SCV000672350 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-14 criteria provided, single submitter clinical testing The p.P339R variant (also known as c.1016C>G), located in coding exon 8 of the STK11 gene, results from a C to G substitution at nucleotide position 1016. The proline at codon 339 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000472320 SCV002057899 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567931 SCV005052861 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 1 2024-03-27 criteria provided, single submitter clinical testing

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