Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001232408 | SCV001404966 | pathogenic | Capillary malformation-arteriovenous malformation syndrome | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile505Lysfs*16) in the RASA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RASA1 are known to be pathogenic (PMID: 24038909). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with capillary malformation-arteriovenous malformation (PMID: 29891884). For these reasons, this variant has been classified as Pathogenic. |