ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4116G>C (p.Arg1372Ser)

dbSNP: rs1585550128
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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 RCV000813991 SCV000954378 uncertain significance Werner syndrome 2018-07-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 1372 of the WRN protein (p.Arg1372Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. This variant has not been reported in the literature in individuals with WRN-related disease. 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").

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