ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr)

dbSNP: rs1584653005
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000852309 SCV000994942 likely pathogenic Capillary malformation-arteriovenous malformation 2 2019-03-29 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic 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. PM6: Assumed de novo, but without confirmation of paternity and maternity.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002062235 SCV002496109 uncertain significance Lymphatic malformation 7 2020-11-23 criteria provided, single submitter clinical testing EPHB4 NM_004444.4 exon 15 p.Cys856Tyr (c.2567G>A): This variant has been reported in the literature in one individual with CM-AVM (Amyere 2017 PMID:28687708). This variant is not present in large control databases and is present in ClinVar (Variation ID:691534). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224479 SCV003919920 uncertain significance Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2 2021-03-30 criteria provided, single submitter clinical testing EPHB4 NM_004444.4 exon 15 p.Cys856Tyr (c.2567G>A): This variant has been reported in the literature in one individual with CM-AVM (Amyere 2017 PMID:28687708). This variant is not present in large control databases and is present in ClinVar (Variation ID:691534). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.