ClinVar Miner

Submissions for variant NM_018419.3(SOX18):c.166C>T (p.Arg56Cys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004560426 SCV005047164 uncertain significance Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome 2024-04-19 criteria provided, single submitter clinical testing A SOX18 c.166C>T (p.Arg56Cys) variant was identified at a heterozygous allelic fraction of 53.9%, a frequency which may be consistent with it being of germline origin. This variant, to our knowledge, has not been reported in the medical literature. This variant is only observed on 9/1,094,138 alleles in the general population (gnomAD v.4.0.0), indicating it is not a common variant. Computational predictors are uncertain as to the impact of this variant on SOX18 function. Due to limited information and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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.