ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.667A>G (p.Ile223Val)

dbSNP: rs587778754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802981 SCV000942833 uncertain significance Werner syndrome 2023-02-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 223 of the WRN protein (p.Ile223Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 135447). 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 tolerated. 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.
ITMI RCV000122304 SCV000086533 not provided not specified 2013-09-19 no assertion provided reference population

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