ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.2522C>T (p.Pro841Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004290759 SCV003951469 likely benign Cardiovascular phenotype 2023-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genomics Laboratory, Washington University in St. Louis RCV003458919 SCV004177048 uncertain significance Lymphatic malformation 7 2023-09-22 criteria provided, single submitter clinical testing The EPHB4 c.2522C>T (p.Pro841Leu) variant was identified at a near heterozygous allelic fraction. This variant, to our knowledge, has not been reported in the medical literature. This variant is only observed on 5/152190 alleles in the general population (gnomAD v.3.1.2), indicating it is not a common variant. Computational predictors are uncertain as to the impact of this variant on EPHB4 function. Due to limited information and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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