ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.2270_2271dup (p.Asp758fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004560414 SCV005047143 likely pathogenic Capillary malformation-arteriovenous malformation 2 2024-01-08 criteria provided, single submitter clinical testing An EPHB4 c.2270_2271dup (p.Asp758Leufs*53) variant was identified at an allelic fraction of 47.5%, a frequency consistent with germline origin. This variant causes a frameshift by duplicating two nucleotides, leading to a premature termination codon, which is predicted to lead to nonsense mediated decay. The EPHB4 c.2270_2271dup (p.Asp758Leufs*53) variant, to our knowledge, has not been reported in the medical literature. It occurs in a highly conserved region of the gene in the kinase domain (Amyere M et al., PMID: 28687708) and is absent from the general population (gnomAD v.4.0.0), indicating it is not a common variant. Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as likely pathogenic.

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