ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.755_758del (p.Lys252fs)

dbSNP: rs1244318419
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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 RCV000695070 SCV000823547 pathogenic Werner syndrome 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys252Serfs*2) 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 0.003%). 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: 573403). For these reasons, this variant has been classified as Pathogenic.

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