ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233675 SCV001406280 uncertain significance Hereditary hemorrhagic telangiectasia 2019-11-12 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 513 of the ENG protein (p.Lys513Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs765564489, ExAC 0.005%). This variant has been observed in an individual affected with clinical features of juvenile polyposis syndrome (PMID: 16287957) and an individual affected with clinical features of hereditary hemorrhagic telangiectasia (PMID: 28655553). 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: "Probably 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 RCV001507757 SCV001713503 uncertain significance not provided 2020-11-12 criteria provided, single submitter clinical testing

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