ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.852_853del (p.Tyr286fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018385 SCV004848199 likely pathogenic Hereditary hemorrhagic telangiectasia 2018-04-02 criteria provided, single submitter clinical testing The p.Tyr286fs variant in ACVRL1 has not been previously reported in individuals with hereditary hemorrhagic telangiectasia (HHT) and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 286 and leads to a premature termination codon 105 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, although additional studies are required to fully establish its clinical significance, the p.Tyr286fs variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1; PM2.

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