ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.631G>A (p.Gly211Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003508989 SCV004295064 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2024-04-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 211 of the ACVRL1 protein (p.Gly211Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of ACVRL1-related conditions (PMID: 26176610, 29743074). 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 with a positive predictive value of 95%. This variant disrupts the p.Gly211 amino acid residue in ACVRL1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25970827; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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