ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter)

dbSNP: rs1940836063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001262026 SCV001439397 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-01-01 criteria provided, single submitter research PVS1+PM2+PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001262026 SCV005836095 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2024-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu391*) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 12700602). ClinVar contains an entry for this variant (Variation ID: 982447). For these reasons, this variant has been classified as Pathogenic.

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