ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2716A>G (p.Ser906Gly)

gnomAD frequency: 0.00004  dbSNP: rs751795043
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477510 SCV000541420 uncertain significance Werner syndrome 2023-12-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 906 of the WRN protein (p.Ser906Gly). This variant is present in population databases (rs751795043, gnomAD 0.009%). 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: 404000). 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.
Ambry Genetics RCV002526382 SCV003745380 uncertain significance Inborn genetic diseases 2022-08-11 criteria provided, single submitter clinical testing The c.2716A>G (p.S906G) alteration is located in exon 22 (coding exon 21) of the WRN gene. This alteration results from a A to G substitution at nucleotide position 2716, causing the serine (S) at amino acid position 906 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003128800 SCV003805179 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.