ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2884C>T (p.Gln962Ter)

dbSNP: rs1585502089
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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 RCV001386109 SCV001586216 pathogenic Werner syndrome 2025-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln962*) in the WRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 16673358, 29753700). ClinVar contains an entry for this variant (Variation ID: 1073193). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001386109 SCV004208895 pathogenic Werner syndrome 2023-11-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001386109 SCV005423340 pathogenic Werner syndrome 2024-10-14 criteria provided, single submitter clinical testing Variant summary: WRN c.2884C>T (p.Gln962X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 251266 control chromosomes (gnomAD). c.2884C>T has been reported in the literature in an individual(s) affected with Werner Syndrome (Huang_2006). The following publication has been ascertained in the context of this evaluation (PMID: 16673358). ClinVar contains an entry for this variant (Variation ID: 1073193). Based on the evidence outlined above, the variant was classified as pathogenic.

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