ClinVar Miner

Submissions for variant NM_000553.4(WRN):c.4165A>G (p.Lys1389Glu) (rs587778751)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464895 SCV000541476 uncertain significance Werner syndrome 2018-06-13 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 1389 of the WRN protein (p.Lys1389Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs587778751, ExAC 0.006%). This variant has not been reported in the literature in individuals with WRN-related disease. ClinVar contains an entry for this variant (Variation ID: 135438). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
ITMI RCV000122295 SCV000086522 not provided not specified 2013-09-19 no assertion provided reference population

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