ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1385C>G (p.Ser462Ter) (rs1085307422)

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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 RCV000756968 SCV000884973 pathogenic not provided 2018-04-03 criteria provided, single submitter clinical testing The ACVRL1 c.1385C>G; p.Ser462Ter variant (rs1085307422) is reported in the literature in individuals with HHT (Abdalla 2004, Olivieri 2007) and is reported in ClinVar (Variation ID: 426031). This variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein. Furthermore, several truncating variants downstream (p.Leu464Ter, p.Glu470Ter, p.Cys471Ter, p.Arg479Ter, p.Gln490Ter) have been associated with HHT and are considered pathogenic (see HHT database link). Based on available information, the p.Ser462Ter variant is considered pathogenic. REFERENCES Link to ACVRL1 HHT database: Abdalla SA et al. Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. Eur Respir J. 2004 Mar;23(3):373-7. Olivieri C et al. Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. J Hum Genet. 2007;52(10):820-9.
Medical & Molecular Genetics Group,University of Lincoln RCV000488647 SCV000576339 pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia no assertion criteria provided literature only

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