ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4033A>C (p.Thr1345Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003614378 SCV004387259 uncertain significance Werner syndrome 2023-04-23 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (rs774438611, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1345 of the WRN protein (p.Thr1345Pro).

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