ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.451-5C>G (rs370181298)

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
GeneDx RCV000681281 SCV000808743 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing The c.451-5 C>G variant has not been published as pathogenic or been reported as benign to our knowledge. However, this variant has been reported in ClinVar as a likely benign variant by an outside laboratory (SCV000560905.2; Landrum et al., 2016). The c.451-5 C>G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Nevertheless, in silico splice prediction programs are inconclusive as to whether this variant has an impact on normal gene splicing. Lastly, splice site variants have not been reported in the Human Gene Mutation Database in association with Costello syndrome (Stenson et al., 2014). However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.
Invitae RCV000476142 SCV000560905 likely benign Costello syndrome 2016-04-13 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.