Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
New York Genome Center | RCV001839304 | SCV002099290 | likely pathogenic | Capillary malformation-arteriovenous malformation 2 | 2021-04-16 | criteria provided, single submitter | clinical testing | The de novo heterozygous c.2044G>A (p.Val682Met) variant identified in the EPHB4 gene has not been reported in affected individuals in the literature. The variant is absent from the gnomAD(v3) database suggesting it is not a common benign variant in the populations represented in that database. The variant affects an evolutionarily conserved residue and is predicted deleterious by multiple in silico prediction tools. Based on the available evidence, the de novo heterozygous c.2044G>A (p.Val682Met) variant identified in the EPHB4 gene is reported as likely pathogenic. |