ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.1293_1294delinsGA (p.Trp432Arg) (rs1572830693)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826185 SCV000967728 likely pathogenic Noonan syndrome 2019-03-06 criteria provided, single submitter clinical testing The p.Trp432Arg (c.1293_1294delinsGA) variant in SOS1 has not been previously re ported in individuals with a RASopathy and was absent from large population stud ies. However, another variant (c.1294T>C) resulting in the same amino acid chang e has been identified in individuals with Noonan syndrome and is classified as p athogenic by this laboratory. Computational prediction tools and conservation an alysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although addit ional studies are required to fully establish its clinical significance, this va riant meets criteria to be classified as likely pathogenic. ACMG/AMP Criteria ap plied: PS1, PM2, PP3.

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.