ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.814G>T (p.Ala272Ser)

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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 RCV004560417 SCV005047146 uncertain significance Capillary malformation-arteriovenous malformation 2 2024-01-27 criteria provided, single submitter clinical testing The EPHB4 c.814G>T (p.Ala272Ser) variant was identified at a near heterozygous allele fraction of 47%, a frequency which may be consistent with it being of germline origin. The EPHB4 c.814G>T (p.Ala272Ser) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v4.0.0), indicating it is not a common variant. Computational predictors suggest that this variant does not impact 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 the EPHB4 c.814G>T (p.Ala272Ser) variant is uncertain at this time.

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