Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002230640 | SCV000552996 | likely pathogenic | Capillary malformation-arteriovenous malformation syndrome | 2016-06-03 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the last exon of the RASA1 mRNA at codon 1019 (p.Gln1019*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated RASA1 protein. This variant is not present in population databases (ExAC no frequency). Truncating variants located in the last exon or within the last 50 nucleotides of the previous to last exon of genes, are not necessarily pathogenic (PMID: 24274751). Family variant testing has shown that this variant segregates with disease in affected family members (Invitae database). In addition, it has been reported in the literature in an additional unrelated individual affected with capillary malformations (PMID: 24038909). In summary, this truncating variant is absent from population databases, it has been reported in affected individuals and it has been shown to segregate with disease in one family. For these reasons, this variant has been classified as Likely Pathogenic. |
| Fulgent Genetics, |
RCV002481469 | SCV002790344 | pathogenic | Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 | 2021-11-25 | criteria provided, single submitter | clinical testing |