Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230539 | SCV001403021 | pathogenic | Capillary malformation-arteriovenous malformation syndrome | 2022-02-22 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 957547). This premature translational stop signal has been observed in individual(s) with RASA1-related conditions (PMID: 24038909). This sequence change creates a premature translational stop signal (p.Tyr164*) 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). |