ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1376C>T (p.Pro459Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241374 SCV001414388 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 459 of the ACVRL1 protein (p.Pro459Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs767764795, ExAC 0.003%). This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 29631995). 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 C). 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. 5

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