ClinVar Miner

Submissions for variant NM_000553.4(WRN):c.2521G>A (p.Ala841Thr) (rs748169173)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176165 SCV000227778 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing
Invitae RCV000225916 SCV000285539 uncertain significance Werner syndrome 2018-12-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 841 of the WRN protein (p.Ala841Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs748169173, ExAC 0.03%). This variant has not been reported in the literature in individuals with WRN-related disease. ClinVar contains an entry for this variant (Variation ID: 195567). 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: "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.

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