Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000533121 | SCV000639538 | pathogenic | Capillary malformation-arteriovenous malformation syndrome | 2019-05-30 | 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 conditions. ClinVar contains an entry for this variant (Variation ID: 464859). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser853Phefs*32) in the RASA1 gene. It is expected to result in an absent or disrupted protein product. |