ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.1385T>A (p.Phe462Tyr) (rs730881043)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159167 SCV000209112 likely pathogenic not provided 2013-01-25 criteria provided, single submitter clinical testing p.Phe462Tyr (TTT>TAT): c.1385 T>A in exon 10 of the SOS1 gene (NM_005633.3). The F462Y missense change in the SOS1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The F462Y amino acid substitution is non-conservative with a non-polar residue (Phe) being replaced by a polar residue (Tyr). The F462 codon is within the highly conserved pleckstrin-homology domain where other disease-causing missense mutations (E433K and G434R) have been reported. However, while many missense changes in SOS1 are pathogenic, several benign coding polymorphisms have also been identified in this gene. The NHLBI ESP Exome Variant Server reports that F462Y was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. The variant is found in NOONAN panel(s).

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.