ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1504G>C (p.Gly502Arg)

gnomAD frequency: 0.00004  dbSNP: rs755548890
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633265 SCV000754482 uncertain significance Werner syndrome 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 502 of the WRN protein (p.Gly502Arg). This variant is present in population databases (rs755548890, gnomAD 0.008%). 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: 528181). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The arginine 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.
Baylor Genetics RCV000633265 SCV001481463 uncertain significance Werner syndrome 2020-05-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321699 SCV004027236 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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