ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.100dup (p.Cys34fs)

dbSNP: rs1555152440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002438237 SCV002748203 pathogenic Cardiovascular phenotype 2021-08-17 criteria provided, single submitter clinical testing The c.100dupT pathogenic mutation, located in coding exon 2 of the ACVRL1 gene, results from a duplication of T at nucleotide position 100, causing a translational frameshift with a predicted alternate stop codon (p.C34Lfs*4). This alteration has been reported in individuals suspected to have hereditary hemorrhagic telangiectasia (HHT) (McDonald J et al. Clin Genet, 2011 Apr;79:335-44; Koenighofer M et al. Clin Exp Otorhinolaryngol, 2019 Nov;12:405-411). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Genetics, Medical University of Vienna RCV005054206 SCV000346042 likely pathogenic Hereditary hemorrhagic telangiectasia 2024-11-01 no assertion criteria provided research

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