ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4001T>G (p.Leu1334Arg)

gnomAD frequency: 0.00003  dbSNP: rs200403732
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534016 SCV000629715 uncertain significance Werner syndrome 2022-11-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1334 of the WRN protein (p.Leu1334Arg). This variant is present in population databases (rs200403732, gnomAD 0.005%). 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: 458475). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237897 SCV002011290 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000534016 SCV002790863 uncertain significance Werner syndrome 2022-02-24 criteria provided, single submitter clinical testing

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