ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.88G>T (p.Glu30Ter)

gnomAD frequency: 0.00001  dbSNP: rs1198210848
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689923 SCV000817593 pathogenic Werner syndrome 2023-02-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 569323). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Glu30*) 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).
Baylor Genetics RCV000689923 SCV004208857 likely pathogenic Werner syndrome 2023-11-30 criteria provided, single submitter clinical testing

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