ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4055T>A (p.Ile1352Asn)

dbSNP: rs1060500065
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066832 SCV001231853 uncertain significance Werner syndrome 2023-07-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 860516). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 1352 of the WRN protein (p.Ile1352Asn). 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. 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. 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.

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