ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.992G>A (p.Arg331Gln) (rs371264852)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130707 SCV000185594 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-18 criteria provided, single submitter clinical testing The p.R331Q variant (also known as c.992G>A), located in coding exon 8 of the STK11 gene, results from a G to A substitution at nucleotide position 992. The arginine at codon 331 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well 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.
Invitae RCV000199024 SCV000254562 uncertain significance Peutz-Jeghers syndrome 2020-10-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 331 of the STK11 protein (p.Arg331Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs371264852, ExAC 0.01%). This variant has been reported in an individual affected with colon cancer (PMID: 28135145). ClinVar contains an entry for this variant (Variation ID: 141962). 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.
Counsyl RCV000199024 SCV000488391 uncertain significance Peutz-Jeghers syndrome 2016-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000486850 SCV000565598 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30287823, 28135145, 29106415)
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000761149 SCV000891065 uncertain significance Retinoblastoma 2017-02-15 criteria provided, single submitter clinical testing
Color Health, Inc RCV000130707 SCV000902884 likely benign Hereditary cancer-predisposing syndrome 2016-02-29 criteria provided, single submitter clinical testing
Mendelics RCV000199024 SCV001140946 uncertain significance Peutz-Jeghers syndrome 2019-05-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000486850 SCV001470113 uncertain significance not provided 2020-08-26 criteria provided, single submitter clinical testing

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