ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2177_2178dup (p.Cys727fs)

dbSNP: rs2130283793
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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 RCV001384366 SCV001583825 pathogenic Werner syndrome 2024-04-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys727Profs*12) 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 variant has not been reported in the literature in individuals affected with WRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1071823). For these reasons, this variant has been classified as Pathogenic.

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