ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.121C>T (p.Gln41Ter)

dbSNP: rs2116462820
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254420 SCV002525568 pathogenic Capillary malformation-arteriovenous malformation syndrome 2022-01-31 criteria provided, single submitter clinical testing The p.Gln41* variant has not been observed in large population studies (Genome Aggregation Database v2.1.1). To our knowledge, this variant has also not been reported in the medical literature or patient-specific databases. While this specific nonsense variant has not been previously reported as pathogenic, other loss-of-function variants affecting EPHB4 have been reported in CM-AVM2 (MIM #618196) (NBK52764, PMID: 28687708).

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