ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.199C>T (p.Arg67Trp) (rs1085307405)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050243 SCV001214342 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2020-10-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 67 of the ACVRL1 protein (p.Arg67Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with hereditary hemorrhagic telangiectasia (PMID: 12114496, 22377182,22553411,15712271, 16123970). ClinVar contains an entry for this variant (Variation ID: 426010). 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). This variant disrupts the p.Arg67 amino acid residue in ACVRL1. Other variant(s) that disrupt this residue have been observed in individuals with ACVRL1-related conditions (PMID: 9245985, 23722869, 15880681, 18498373, 17786384, 16706966), 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. 6
Medical & Molecular Genetics Group,University of Lincoln RCV000488479 SCV000576315 pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia no assertion criteria provided literature only

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