ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.2182A>G (p.Met728Val)

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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 RCV005052245 SCV005685333 uncertain significance Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2 2024-12-27 criteria provided, single submitter clinical testing An EPHB4 c.2182A>G (p.Met728Val) variant was identified at a heterozygous allelic fraction of 50%, a frequency which may be consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature. It is absent from the general population (gnomAD v.4.1.0), indicating it is not a common variant. Computational predictors indicate that the variant is damaging, evidence that may correlate with impact to 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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