ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3494A>G (p.Gln1165Arg)

dbSNP: rs1308927977
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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 RCV000558969 SCV000629694 uncertain significance Werner syndrome 2023-06-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WRN-related conditions. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 458458). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1165 of the WRN protein (p.Gln1165Arg).

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