ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1228C>T (p.Gln410Ter)

dbSNP: rs1563339055
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381357 SCV001579720 pathogenic Werner syndrome 2023-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln410*) 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 present in population databases (no rsID available, gnomAD 0.0009%). 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: 1069486). For these reasons, this variant has been classified as Pathogenic.

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