The NM_000020.3: c.1348A>G variant in ACVRL1 is a missense variant predicted to cause substitution of threonine by alanine at amino acid 450 (p.Thr450Ala). The filtering allele frequency (the lower threshold of the 95% CI of 53/10366) of the c.1348A>G variant in ACVRL1 is 0.004015 for Ashkenazi Jewish chromosomes by gnomAD v2.1.1, which is higher than the ClinGen HHT VCEP threshold (>0.002) for BS1, and therefore meets this criterion (BS1). The computational predictor REVEL gives a score of 0.245, which is neither above nor below the thresholds predicting a damaging or benign impact on ACVRL1 function. In summary, this variant meets the criteria to be classified as likely benign for autosomal dominant hereditary hemorrhagic telangiectasia based on the ACMG/AMP criteria applied, as specified by the ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel: BS1 (specification version 1.0.0; 1/4/2024).