Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002232823 | SCV000812734 | pathogenic | Capillary malformation-arteriovenous malformation syndrome | 2018-08-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg749*) in the RASA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with capillary malformation (PMID: 24038909). Loss-of-function variants in RASA1 are known to be pathogenic (PMID: 24038909). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001572593 | SCV001797262 | pathogenic | not provided | 2020-02-06 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 565648; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 29891884, 24038909, 26969842) |
Fulgent Genetics, |
RCV002507185 | SCV002811677 | pathogenic | Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 | 2022-02-01 | criteria provided, single submitter | clinical testing |