Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760551 | SCV000890442 | pathogenic | not provided | 2018-10-02 | criteria provided, single submitter | clinical testing | The Y806X variant in the EPHB4 gene has been reported previously in three related individuals with capillary malformations, but no additional phenotypic information was available (Amyere et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y806X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y806X as a pathogenic variant. |
SIB Swiss Institute of Bioinformatics | RCV000852305 | SCV000994937 | likely pathogenic | Capillary malformation-arteriovenous malformation 2 | 2019-03-29 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Capillary malformation-arteriovenous malformation 2. The following ACMG Tag(s) were applied: PM2: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1: Predicted nullvariant in a gene where LOF is a known mechanism of disease. |