Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002230639 | SCV000552995 | pathogenic | Capillary malformation-arteriovenous malformation syndrome | 2016-06-24 | criteria provided, single submitter | clinical testing | This sequence change deletes 2 nucleotides in exon 10 of the RASA1 mRNA (c.1358_1359delCA), causing a frameshift at codon 453. This creates a premature translational stop signal (p.Thr453Serfs*8) and is expected to result in an absent or disrupted protein product. 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. |