ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1475C>T (p.Ser492Phe)

gnomAD frequency: 0.00001  dbSNP: rs766910166
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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 RCV001243471 SCV001416634 uncertain significance Werner syndrome 2023-09-26 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 492 of the WRN protein (p.Ser492Phe). 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: 968358). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (rs766910166, gnomAD 0.002%).

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