Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003391552 | SCV004110156 | likely pathogenic | RASA1-related disorder | 2023-04-02 | criteria provided, single submitter | clinical testing | The RASA1 c.1486delA variant is predicted to result in a frameshift and premature protein termination (p.Ile496Serfs*2). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in RASA1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |