ClinVar Miner

Submissions for variant NM_001126049.2(KLLN):c.-806A>C

gnomAD frequency: 0.00004  dbSNP: rs587782761
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132283 SCV000187368 uncertain significance Hereditary cancer-predisposing syndrome 2014-04-26 criteria provided, single submitter clinical testing
Counsyl RCV000411753 SCV000487825 uncertain significance Cowden syndrome 1 2015-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000759327 SCV000680564 uncertain significance not provided 2018-02-13 criteria provided, single submitter clinical testing This variant is denoted PTEN c.-1177T>G, and describes a nucleotide substitution 1177 base pairs upstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the base that is substituted in braces, is CAGC[T/G]GCAG. This variant, also called c.-1176T>G using alternate numbering, has not been published in the literature to our knowledge. Variants within the PTEN promoter have been observed in individuals with features of Cowden syndrome (Zhou 2003). Based on currently available information, it is unclear whether PTEN c.-1177T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759327 SCV000888584 uncertain significance not provided 2017-10-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505115 SCV002817093 uncertain significance Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; Glioma susceptibility 2; Cowden syndrome 1 2021-10-19 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000132283 SCV004228016 likely benign Hereditary cancer-predisposing syndrome 2023-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734677 SCV005356385 uncertain significance PTEN-related disorder 2024-08-28 no assertion criteria provided clinical testing The PTEN c.-1177T>G variant is located in the 5' untranslated region. To our knowledge, this variant has not been reported in the literature. However, variants within the PTEN promoter have been observed in individuals with Cowden syndrome (Zhou et al. 2003. PubMed ID: 12844284; Tan et al. 2011. PubMed ID: 21194675). This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as uncertain in ClinVar. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.