ClinVar Miner

Submissions for variant NM_000553.5(WRN):c.513_514delCAinsTC (p.Thr172Pro) (rs1554519257)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543218 SCV000629730 uncertain significance Werner syndrome 2018-04-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 172 of the WRN protein (p.Thr172Pro). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and proline. 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. ClinVar contains an entry for this variant (Variation ID: 458487). One experimental study has indicated that this missense change results in a slight reduction of helicase/exonuclease activity (PMID: 15489508), while another has shown no appreciable effect on exonuclease activity (PMID: 16622405). The clinical significance of these findings is unclear. 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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