Total submissions: 2
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. |
Prevention |
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. |