ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1487A>G (p.Lys496Arg)

dbSNP: rs2130156186
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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 RCV001894897 SCV002137162 uncertain significance Werner syndrome 2021-07-24 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this variant does not substantially affect WRN protein function (PMID: 15355988). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 496 of the WRN protein (p.Lys496Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine.

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