ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2431G>T (p.Val811Leu)

dbSNP: rs1563361058
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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 RCV000703505 SCV000832408 uncertain significance Werner syndrome 2022-07-21 criteria provided, single submitter clinical testing 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 leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 580066). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 811 of the WRN protein (p.Val811Leu).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238193 SCV002011296 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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