ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3173C>T (p.Ser1058Phe)

dbSNP: rs147294573
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242222 SCV001415293 uncertain significance Werner syndrome 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1058 of the WRN protein (p.Ser1058Phe). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 967333). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (rs147294573, gnomAD 0.007%).

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