ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu)

dbSNP: rs1057515420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719758 SCV005325777 uncertain significance not provided 2023-08-07 criteria provided, single submitter clinical testing 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; Observed in at least one individual from a family with history of severe pulmonary stenosis, tetralogy of Fallot, and ventricular septal defects; however, additional details were not provided (Preuss et al., 2016); This variant is associated with the following publications: (PMID: 27760138)
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine RCV000408650 SCV000262692 likely pathogenic Tetralogy of Fallot 2015-01-01 no assertion criteria provided research

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