ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu)

gnomAD frequency: 0.00001  dbSNP: rs865922330
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 RCV001322075 SCV001512931 benign Noonan syndrome 9 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002357153 SCV002621841 uncertain significance Cardiovascular phenotype 2022-05-09 criteria provided, single submitter clinical testing The p.S1315L variant (also known as c.3944C>T), located in coding exon 23 of the SOS2 gene, results from a C to T substitution at nucleotide position 3944. The serine at codon 1315 is replaced by leucine, an amino acid with dissimilar 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 RCV001322075 SCV002762965 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.