ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter)

dbSNP: rs747745016
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
Invitae RCV002231768 SCV000639533 pathogenic Capillary malformation-arteriovenous malformation syndrome 2017-10-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RASA1 are known to be pathogenic (PMID: 24038909). This variant has not been reported in the literature in individuals with RASA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr553*) in the RASA1 gene. It is expected to result in an absent or disrupted protein product.
PreventionGenetics, part of Exact Sciences RCV003983112 SCV004796895 pathogenic RASA1-related condition 2024-02-08 criteria provided, single submitter clinical testing The RASA1 c.1659C>A variant is predicted to result in premature protein termination (p.Tyr553*). This variant has been reported reported in an individual with capillary malformation-arteriovenous malformation (Parker et al 2021. PubMed ID: 33502802). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in RASA1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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.