ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.374A>T (p.His125Leu)

gnomAD frequency: 0.00001  dbSNP: rs777300218
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001871005 SCV002128582 likely benign Noonan syndrome 9 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343932 SCV002621977 uncertain significance Cardiovascular phenotype 2022-10-02 criteria provided, single submitter clinical testing The p.H125L variant (also known as c.374A>T), located in coding exon 4 of the SOS2 gene, results from an A to T substitution at nucleotide position 374. The histidine at codon 125 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001871005 SCV002763139 uncertain significance Noonan syndrome 9 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.