ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2505A>C (p.Gln835His)

dbSNP: rs1554528366
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633196 SCV000754412 uncertain significance Werner syndrome 2017-12-21 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 835 of the WRN protein (p.Gln835His). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and histidine. 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. 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"). This variant has not been reported in the literature in individuals with WRN-related disease. This variant is not present in population databases (ExAC no frequency).

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