Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235551 | SCV000948779 | pathogenic | Capillary malformation-arteriovenous malformation syndrome | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg398*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with capillary malformation-arteriovenous malformation (PMID: 18446851, 24038909). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 652988). For these reasons, this variant has been classified as Pathogenic. |
Seattle Children's Hospital Molecular Genetics Laboratory, |
RCV002254318 | SCV002525588 | pathogenic | not provided | 2020-03-13 | criteria provided, single submitter | clinical testing | The p.Arg398* variant replaces the arginine at position 398 with a termination codon and is expected to cause a loss of protein function. This variant is absent from large population cohorts (0 of 250,278 alleles; Genome Aggregation Database v2.1). This variant has previously been reported in several affected individuals with capillary malformations (PMID: 18446851, PMID: 24038909, PMID: 31300548). Often the p.Arg398* variant was inherited (PMID: 18446851, PMID: 24038909). |