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
Labcorp Genetics (formerly Invitae), Labcorp RCV000802981 SCV000942833 uncertain significance Werner syndrome 2023-02-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 135447). 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 tolerated. This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is not present in population databases (gnomAD no frequency). 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).
ITMI RCV000122304 SCV000086533 not provided not specified 2013-09-19 no assertion provided reference population

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