Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002231775 | SCV000639549 | pathogenic | Capillary malformation-arteriovenous malformation syndrome | 2017-02-28 | criteria provided, single submitter | clinical testing | While this variant has not been reported in the literature, truncating variants in RASA1 are known to be pathogenic (PMID: 24038909). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal at codon 219 (p.Ser219*) of the RASA1 gene. It is expected to result in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV000763547 | SCV000894364 | pathogenic | Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 | 2018-10-31 | criteria provided, single submitter | clinical testing |