ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.1190G>A (p.Arg397His)

gnomAD frequency: 0.00003  dbSNP: rs538766032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002261471 SCV002540758 uncertain significance Capillary malformation-arteriovenous malformation 2 2022-07-07 criteria provided, single submitter clinical testing The variant c.1190G>A (p.(Arg397His)) in exon 6 of the EPHB4-gene is found at a population frequency of 0.0035% in the gnomAD database, it affects a weakly conserved nucleotide, a moderately conserved amino acid within a protein domain and there is a small physicochemical difference between Arg and His. ACMG criteria used for classification: PM2.

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