ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter)

dbSNP: rs1563376347
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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 RCV000706164 SCV000835201 pathogenic Werner syndrome 2018-12-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with WRN-related disease. This sequence change creates a premature translational stop signal (p.Tyr998*) in the WRN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000706164 SCV005055826 likely pathogenic Werner syndrome 2024-03-04 criteria provided, single submitter clinical testing

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