ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4166A>C (p.Lys1389Thr)

dbSNP: rs1803931913
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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 RCV001064250 SCV001229138 uncertain significance Werner syndrome 2021-09-29 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 1389 of the WRN protein (p.Lys1389Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with WRN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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