ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2596G>A (p.Val866Ile)

gnomAD frequency: 0.00001  dbSNP: rs776463866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227720 SCV000285542 uncertain significance Werner syndrome 2023-05-21 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 238142). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (rs776463866, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 866 of the WRN protein (p.Val866Ile).
GeneDx RCV001770192 SCV001993032 uncertain significance not provided 2019-07-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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