ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp)

gnomAD frequency: 0.00004  dbSNP: rs145300204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001262085 SCV001439474 likely benign Telangiectasia, hereditary hemorrhagic, type 2 2018-01-01 criteria provided, single submitter research BS1 +BP2
Invitae RCV001262085 SCV002300654 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2022-01-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 316 of the ACVRL1 protein (p.Glu316Asp). This variant is present in population databases (rs145300204, gnomAD 0.01%). This missense change has been observed in individual(s) with hereditary hemorrhagic telangiectasia and/or pulmonary arterial hypertension (PMID: 32573726; Invitae). ClinVar contains an entry for this variant (Variation ID: 982491). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACVRL1 protein function. 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.

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