ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3886A>G (p.Lys1296Glu)

gnomAD frequency: 0.00001  dbSNP: rs1354326118
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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 RCV002027327 SCV002309065 uncertain significance Werner syndrome 2023-09-19 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1296 of the WRN protein (p.Lys1296Glu). 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: 1517399).

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