ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.430C>T (p.Arg144Ter) (rs758683062)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472148 SCV000552408 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2020-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 144 (p.Arg144*) of the ACVRL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants ACVRL1 are known to be pathogenic (PMID: 15879500). This particular variant has been reported in the literature in individuals affected with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension (PMID: 12700602, 15880681, 16540754, 23722869, 19555857, 16429404, 15024723). ClinVar contains an entry for this variant (Variation ID: 212804). For these reasons, this variant has been classified as Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755781 SCV000883352 pathogenic not provided 2017-09-07 criteria provided, single submitter clinical testing The ACVRL1 c.430C>T, p.Arg144Ter variant (rs758683062) has been reported in multiple individuals diagnosed with hereditary hemorrhagic telangiectasia (HHT) (Abdalla 2000, Abdalla 2005, Brusgaard 2004, Canzonieri 2013, Giordano 2006, Kjeldsen 2005, Komiyama 2014, Lesca 2005, Olivieri 2007, Schulte 2005), and reported to the ClinVar database with a pathogenic classification (Variation ID: 212804). It was observed once in the Genome Aggregation Database, but considered a low confidence variant in the database. The p.Arg144Ter variant introduces a premature termination codon, and is predicted to result in a truncated protein or an absent transcript. Based on the above information, the variant is classified as pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000472148 SCV000893304 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000755781 SCV001247162 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Medical & Molecular Genetics Group,University of Lincoln RCV000488769 SCV000576317 pathogenic Primary pulmonary hypertension 1 no assertion criteria provided literature only

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