ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2092C>T (p.Pro698Ser)

dbSNP: rs752740258
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227621 SCV001399985 uncertain significance Werner syndrome 2021-08-28 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with WRN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 698 of the WRN protein (p.Pro698Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.

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