ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3679A>T (p.Ser1227Cys)

dbSNP: rs1563382585
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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 RCV000689068 SCV000816706 uncertain significance Werner syndrome 2018-01-29 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 1227 of the WRN protein (p.Ser1227Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15". The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with WRN-related disease. This variant is not present in population databases (ExAC no frequency).

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