ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.281T>C (p.Ile94Thr)

gnomAD frequency: 0.00001  dbSNP: rs397517161
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038539 SCV000062217 uncertain significance not specified 2011-03-25 criteria provided, single submitter clinical testing The Ile94Thr variant has not been previously reported in the literature or been identified in our laboratory in over 1,300 individuals. This residue is not cons erved across evolutionarily distinct species and computational analyses (PolyPhe n2, SIFT, AlignGVGD, MAPP) provide inconsistent predictions regarding the impact to the normal function of the protein. It should be noted that the sensitivity and specificity of these computational programs has not been determined by our l aboratory.
Institute of Human Genetics, University Hospital Muenster RCV004584338 SCV002047378 uncertain significance See cases 2021-12-13 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP3
Genome-Nilou Lab RCV002467548 SCV002763594 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467547 SCV002763595 uncertain significance Fibromatosis, gingival, 1 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.