ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.767C>G (p.Ser256Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003505043 SCV004326672 pathogenic Werner syndrome 2023-09-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser256*) 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 has not been reported in the literature in individuals affected with WRN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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