ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His)

gnomAD frequency: 0.00016  dbSNP: rs141764916
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002514855 SCV003286160 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2022-11-29 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on ACVRL1 function (PMID: 23124896). 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. ClinVar contains an entry for this variant (Variation ID: 161203). This missense change has been observed in individual(s) with clinical features of hereditary hemorrhagic telangiectasia (PMID: 15712271). This variant is present in population databases (rs141764916, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 386 of the ACVRL1 protein (p.Arg386His).
CSER _CC_NCGL, University of Washington RCV000148356 SCV000190046 likely pathogenic Haemorrhagic telangiectasia 2 2014-06-01 no assertion criteria provided research

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