Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000468716 | SCV000552997 | pathogenic | Capillary malformation-arteriovenous malformation syndrome | 2022-01-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 411714). This premature translational stop signal has been observed in individual(s) with capillary malformations (PMID: 18446851). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu205Lysfs*4) 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). |
| Victorian Clinical Genetics Services, |
RCV002470865 | SCV002769287 | pathogenic | Capillary malformation-arteriovenous malformation 1 | 2020-05-26 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease. A second somatic variant is also required for the development of capillary lesions (PMID: 24038909; 29891884). (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 2 of 25). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0701 - Comparable variants have very strong previous evidence for pathogenicity. Other variants predicted to cause NMD have been reported as pathogenic in ClinVar. (P) 0802 - Moderate previous evidence of pathogenicity in unrelated individuals. The variant has been previously reported in patients with capillary malformations and has been shown to segregate with disease (ClinVar, PMID: 18446851, 24038909, 29891884). (P) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign |
| Fulgent Genetics, |
RCV002496786 | SCV002785384 | pathogenic | Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 | 2021-07-19 | criteria provided, single submitter | clinical testing |