ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1123G>C (p.Glu375Gln)

gnomAD frequency: 0.00002  dbSNP: rs745391184
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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 RCV000819804 SCV000960485 uncertain significance Werner syndrome 2023-03-08 criteria provided, single submitter clinical testing 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: 662205). 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. This variant is present in population databases (rs745391184, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 375 of the WRN protein (p.Glu375Gln).

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