ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1373A>G (p.Glu458Gly)

gnomAD frequency: 0.00001  dbSNP: rs1813481138
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343569 SCV001537557 uncertain significance Werner syndrome 2020-08-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 458 of the WRN protein (p.Glu458Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with WRN-related conditions. 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: Not Available; PolyPhen-2: Benign; Align-GVGD: Not Available). 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.

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