ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1180G>C (p.Gly394Arg)

dbSNP: rs768780695
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536736 SCV000629074 uncertain significance Peutz-Jeghers syndrome 2023-09-10 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STK11 protein function. ClinVar contains an entry for this variant (Variation ID: 458020). This missense change has been observed in individual(s) with rectal cancer (PMID: 28135145). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 394 of the STK11 protein (p.Gly394Arg).
Ambry Genetics RCV000565643 SCV000672343 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-03 criteria provided, single submitter clinical testing The p.G394R variant (also known as c.1180G>C), located in coding exon 9 of the STK11 gene, results from a G to C substitution at nucleotide position 1180. The glycine at codon 394 is replaced by arginine, an amino acid with dissimilar properties. This variant has been reported in an individual affected with MSS colorectal cancer at age 29; however, this individual also was found to be heterozygous for an MSH6 pathogenic mutation (Yurgelun MB et al. J. Clin. Oncol., 2017 Apr;35:1086-1095). 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.
Color Diagnostics, LLC DBA Color Health RCV000565643 SCV001351987 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000536736 SCV002057959 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568744 SCV005052892 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 1 2023-11-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000536736 SCV005425441 uncertain significance Peutz-Jeghers syndrome 2024-09-23 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.