Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Excellence Center for Genomics and Precision Medicine, |
RCV001354043 | SCV001437513 | pathogenic | Capillary malformation-arteriovenous malformation 1 | 2020-10-01 | criteria provided, single submitter | clinical testing | The variation is predicted to result in premature termination codon due to the frameshift changed by 1 bp deletion in RASA1. The mutation in this gene is known to be associated with capillary-malformation- arteriovenous malformation 1. The loss of function is the known mechanisms of this gene. The variant was not found in gnomAD database or TOPMED database. The clinical manifestation of the patient can be explained by the change in this gene. Therefore, we characterize this variant as pathogenic according to the ACMG criteria. |