ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.599C>G (p.Thr200Ser)

gnomAD frequency: 0.00003  dbSNP: rs143007609
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
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813714 SCV002060907 uncertain significance Noonan syndrome and Noonan-related syndrome 2017-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359267 SCV002657143 uncertain significance Cardiovascular phenotype 2021-12-23 criteria provided, single submitter clinical testing The p.T200S variant (also known as c.599C>G), located in coding exon 5 of the SOS1 gene, results from a C to G substitution at nucleotide position 599. The threonine at codon 200 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002468324 SCV002763520 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468323 SCV002763521 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.