ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4034C>A (p.Thr1345Lys)

gnomAD frequency: 0.00001  dbSNP: rs759390217
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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 RCV000701628 SCV000830439 uncertain significance Werner syndrome 2019-10-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs759390217, ExAC 0.01%). This sequence change replaces threonine with lysine at codon 1345 of the WRN protein (p.Thr1345Lys). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and lysine. 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: "Possibly 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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