ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.208G>A (p.Gly70Arg) (rs1439294840)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693390 SCV000821258 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 70 of the ACVRL1 protein (p.Gly70Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hereditary hemorrhagic telangiectasia (PMID: 21158752). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507803 SCV001713596 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing

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