ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.2173G>A (p.Ala725Thr)

gnomAD frequency: 0.00001  dbSNP: rs1159930961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000852307 SCV000994940 uncertain significance Capillary malformation-arteriovenous malformation 2 2019-03-29 criteria provided, single submitter curation This variant is interpreted as Uncertain significance for Capillary malformation-arteriovenous malformation 2. The following ACMG Tag(s) were applied: PM2-Supporting: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM1: Located in a mutational hot spot and/or critical and well-established functional domain (e.g.,active site of an enzyme) without benign variation. PP3: Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254320 SCV002525682 likely pathogenic not provided 2021-09-10 criteria provided, single submitter clinical testing This variant has previously been reported in an individual with a capillary malformation (PMID: 28687708). This is an ultra-rare variant in large population studies (observed in 1 of 251,032 alleles, gnomAD v2.1.1.).

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