ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2227del (p.Thr743fs)

dbSNP: rs2130284286
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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 RCV001958447 SCV002224548 pathogenic Werner syndrome 2023-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr743Glnfs*34) 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: 1446178). For these reasons, this variant has been classified as Pathogenic.

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