ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1264_1265delinsCC (p.Ser422Pro)

dbSNP: rs864622091
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205435 SCV000259307 uncertain significance Peutz-Jeghers syndrome 2024-01-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 422 of the STK11 protein (p.Ser422Pro). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with STK11-related conditions. ClinVar contains an entry for this variant (Variation ID: 219441). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV001010643 SCV001170873 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-01 criteria provided, single submitter clinical testing The c.1264_1265delAGinsCC variant (also known as p.S422P), located in coding exon 9 of the STK11 gene, results from an in-frame deletion of an AG and insertion of CC at nucleotide positions 1264 to 1265. This results in the substitution of the serine residue for a proline residue at codon 422, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000205435 SCV002058003 uncertain significance Peutz-Jeghers syndrome 2021-07-15 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.