Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241374 | SCV001414388 | uncertain significance | Telangiectasia, hereditary hemorrhagic, type 2 | 2021-11-14 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 459 of the ACVRL1 protein (p.Pro459Leu). This variant is present in population databases (rs767764795, gnomAD 0.006%). This missense change has been observed in individual(s) with pulmonary arterial hypertension (PMID: 29631995). ClinVar contains an entry for this variant (Variation ID: 966645). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |