ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.2621T>C (p.Leu874Pro)

dbSNP: rs1584652900
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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 RCV000852317 SCV000994952 uncertain significance Capillary malformation-arteriovenous malformation 2 2019-03-29 criteria provided, single submitter curation This variant is interpreted as a Uncertain significance for Capillary malformation-arteriovenous malformation 2. The following ACMG Tag(s) were applied: PP3: Multiple lines of computational evidence support a deleterious effect on the gene or gene product. 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-
GeneDx RCV003238823 SCV003936231 uncertain significance not provided 2022-12-27 criteria provided, single submitter clinical testing Identified in a patient with capillary malformation with arteriovenous malformation, however detailed clinical and segregation information was not provided (Amyere et al.., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28687708)

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