ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.835C>T (p.Arg279Trp)

gnomAD frequency: 0.00019  dbSNP: rs199923241
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633192 SCV000754408 uncertain significance Werner syndrome 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 279 of the WRN protein (p.Arg279Trp). This variant is present in population databases (rs199923241, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This missense change has been observed to be homozygous, hemizygous or homoplasmic in an individual who did not have the expected clinical features for that genetic result (internal data). ClinVar contains an entry for this variant (Variation ID: 528108). 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 tolerated. 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 RCV000633192 SCV001483005 uncertain significance Werner syndrome 2019-10-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV000633192 SCV004237549 uncertain significance Werner syndrome 2023-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025425 SCV004979950 uncertain significance Inborn genetic diseases 2024-01-19 criteria provided, single submitter clinical testing The c.835C>T (p.R279W) alteration is located in exon 8 (coding exon 7) of the WRN gene. This alteration results from a C to T substitution at nucleotide position 835, causing the arginine (R) at amino acid position 279 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion, Medical Genetics RCV000633192 SCV005328762 likely benign Werner syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.