ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1486A>T (p.Lys496Ter)

gnomAD frequency: 0.00001  dbSNP: rs751969803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035933 SCV001199273 pathogenic Werner syndrome 2022-07-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 835120). This premature translational stop signal has been observed in individual(s) with Werner Syndrome (PMID: 16673358). This variant is present in population databases (rs751969803, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Lys496*) 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).
Baylor Genetics RCV001035933 SCV005055847 pathogenic Werner syndrome 2023-11-12 criteria provided, single submitter clinical testing

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