Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Molecular Pathology, |
RCV002272690 | SCV002556713 | likely pathogenic | Capillary malformation-arteriovenous malformation 2 | 2021-06-03 | criteria provided, single submitter | clinical testing | The EPHB4 c.2420G>A variant is classified as LIKELY PATHOGENIC (PM1, PM2, PP3, PM5_Supporting) The EPHB4 c.2420G>A variant is a single nucleotide change in exon 14 of the EPHB4 gene, which is predicted to change the amino acid glycine at position 807 in the protein to glutamic acid. This variant is absent from population databases (PM2). This variant is located in the protein kinase catalytic domain and is predicted to impact protein function (PM1), and the different amino acid change p.Gly807Arg has been reported in two probands with arteriovenous malformations (Amyere et al, 2017; PMID:28687708). Computational predictions support a deleterious effect on the gene or gene product (PP3). This variant has not been reported in ClinVar or HGMD. |