ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg)

dbSNP: rs1562974383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000722066 SCV000994939 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: 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.
OMIM RCV000722066 SCV000853246 pathogenic Capillary malformation-arteriovenous malformation 2 2018-11-21 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004751678 SCV005341467 uncertain significance EPHB4-related disorder 2024-03-27 no assertion criteria provided clinical testing The EPHB4 c.319T>C variant is predicted to result in the amino acid substitution p.Cys107Arg. This variant has been reported in a patient with vein of Galen malformation (Patient AA5718 in Vivanti et al. 2018. PubMed ID: 29444212). To our knowledge, this variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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