ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1505G>T (p.Gly502Val)

gnomAD frequency: 0.00005  dbSNP: rs201172985
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477187 SCV000541443 uncertain significance Werner syndrome 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 502 of the WRN protein (p.Gly502Val). This variant is present in population databases (rs201172985, gnomAD 0.0009%). 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: 404021). 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.
Ambry Genetics RCV002522762 SCV003745161 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.1505G>T (p.G502V) alteration is located in exon 12 (coding exon 11) of the WRN gene. This alteration results from a G to T substitution at nucleotide position 1505, causing the glycine (G) at amino acid position 502 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003970271 SCV004777899 uncertain significance WRN-related condition 2024-01-02 criteria provided, single submitter clinical testing The WRN c.1505G>T variant is predicted to result in the amino acid substitution p.Gly502Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD and has been reported in ClinVar as uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/404021/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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