ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1232G>C (p.Arg411Pro) (rs121909284)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000008746 SCV000934832 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 411 of the ACVRL1 protein (p.Arg411Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with hereditary hemorrhagic telangiectasia (PMID: 15024723, 17384219, 16123970, Invitae). ClinVar contains an entry for this variant (Variation ID: 8257). Experimental studies have shown that this missense change results in lack of functional response to BMP9 (PMID: 20501893). This variant disrupts the p.Arg411 amino acid residue in ACVRL1. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 15024723, 20414677, 23805858, 14684682, 8640225), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008746 SCV000028955 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2004-04-01 no assertion criteria provided literature only

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