ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1628A>C (p.Tyr543Ser)

gnomAD frequency: 0.00002  dbSNP: rs151001436
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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 RCV000550132 SCV000629619 uncertain significance Werner syndrome 2023-09-12 criteria provided, single submitter clinical testing 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 458388). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (rs151001436, gnomAD 0.007%). This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 543 of the WRN protein (p.Tyr543Ser).
GeneDx RCV002281104 SCV002569599 uncertain significance not provided 2022-03-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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