ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) (rs61760904)

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
Invitae RCV001080292 SCV000629007 benign Noonan syndrome 2020-12-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590808 SCV000698694 benign not provided 2017-04-11 criteria provided, single submitter clinical testing Variant summary: The RRAS c.397G>A (p.Asp133Asn) variant involves the alteration of a conserved nucleotide, resulting in missense change. 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 605/121088 control chromosomes (including one homozygote) from ExAC at a frequency of 0.0049964, which is approximately 1999 times the estimated maximal expected allele frequency of a pathogenic RRAS variant (0.0000025), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as Benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001449781 SCV001653057 benign not specified 2018-12-28 criteria provided, single submitter clinical testing p.Asp133Asn in exon 4 of RRAS: This variant is not expected to have clinical significance because it has been identified in 0.84% (558/66576) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs61760904).

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.