ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.571G>A (p.Glu191Lys) (rs886041241)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000293469 SCV000329528 uncertain significance not provided 2018-12-14 criteria provided, single submitter clinical testing The E191K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E191K variant has been observed at GeneDx in a patient who also harbored a variant of uncertain significance in the RAF1 gene, and had a parent who harbored both variants (clinical information not provided). The E191K variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E191K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. While this substitution occurs at a position that is conserved across species, it is not located within a variant hot spot" or known functional domain. In silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant."
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761106 SCV000891021 uncertain significance Neuroblastoma 2016-08-26 no assertion criteria provided 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.