ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3761C>T (p.Thr1254Ile)

dbSNP: rs1248278851
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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 RCV000803044 SCV000942900 uncertain significance Werner syndrome 2023-05-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 648335). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1254 of the WRN protein (p.Thr1254Ile). 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.

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