ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.327T>G (p.Cys109Trp)

gnomAD frequency: 0.00001  dbSNP: rs371538747
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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 RCV000700003 SCV000828738 uncertain significance Werner syndrome 2023-08-28 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. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (Invitae). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 577296). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (rs371538747, gnomAD 0.0009%). This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 109 of the WRN protein (p.Cys109Trp).

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