ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.1541G>A (p.Gly514Asp)

dbSNP: rs2116443777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254419 SCV002525567 likely pathogenic Capillary malformation-arteriovenous malformation 2 2021-12-20 criteria provided, single submitter clinical testing This variant results in the substitution of a glycine with an aspartic acid at amino acid position 514 in the fibronectin type III domain of the EPBH4 protein. This variant has not previously been previously reported in the medical literature or patient databases and is absent from the general population (gnomAD v2.1.1). However, other damaging missense variants in the same domain have been reported among individuals with CM-AVM syndrome (PMID: 28687708, ClinVar Variation ID: 691538).

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