ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.2484+1G>A (rs927772349)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002267 SCV001160144 pathogenic none provided 2019-08-29 criteria provided, single submitter clinical testing The EPHB4 c.2484+1G>A variant (rs927772349), is reported in the literature in at least one individual affected with capillary malformation-arteriovenous malformation (Amyere 2017). This variant is reported in ClinVar (Variation ID: 590874), and is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron 14, which is likely to disrupt gene function. Based on available information, the c.2484+1G>A variant is considered to be pathogenic. References: Amyere M et al. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation. 2017 Sep 12;136(11):1037-1048.
OMIM RCV000722062 SCV000853242 pathogenic Capillary malformation-arteriovenous malformation 2 2018-11-21 no assertion criteria provided literature only

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