ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1462G>T (p.Glu488Ter)

dbSNP: rs2130155645
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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 RCV001873127 SCV002144188 pathogenic Werner syndrome 2021-07-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 16673358). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu488*) 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).

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