ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1523A>G (p.His508Arg)

dbSNP: rs1372822403
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
Ambry Genetics RCV003301379 SCV003996312 uncertain significance Cardiovascular phenotype 2023-05-14 criteria provided, single submitter clinical testing The p.H508R variant (also known as c.1523A>G), located in coding exon 10 of the SOS2 gene, results from an A to G substitution at nucleotide position 1523. The histidine at codon 508 is replaced by arginine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005061225 SCV005713494 likely benign Noonan syndrome 9 2024-06-23 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.