ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1588C>A (p.Pro530Thr)

dbSNP: rs1554522734
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524935 SCV000629617 uncertain significance Werner syndrome 2017-07-31 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 530 of the WRN protein (p.Pro530Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. 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 disease. 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: "Probably 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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