ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile)

gnomAD frequency: 0.00003  dbSNP: rs776000121
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
GeneDx RCV000261274 SCV000330877 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001855076 SCV002248960 likely benign Noonan syndrome 9 2024-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436096 SCV002751172 uncertain significance Cardiovascular phenotype 2021-10-13 criteria provided, single submitter clinical testing The p.N993I variant (also known as c.2978A>T), located in coding exon 19 of the SOS2 gene, results from an A to T substitution at nucleotide position 2978. The asparagine at codon 993 is replaced by isoleucine, an amino acid with dissimilar 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.

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.