Submissions for variant NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002455658	SCV002738857	uncertain significance	Cardiovascular phenotype	2022-07-08	criteria provided, single submitter	clinical testing	The p.V84I variant (also known as c.250G>A), located in coding exon 3 of the EPHB4 gene, results from a G to A substitution at nucleotide position 250. The valine at codon 84 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224634	SCV003919921	uncertain significance	Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2	2022-09-01	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.002% (1/41462) (https://gnomad.broadinstitute.org/variant/7-100823805-C-T?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV003458865	SCV004183323	benign	Capillary malformation-arteriovenous malformation 2	2023-12-12	criteria provided, single submitter	research