ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.487_488del (p.Asp163fs)

dbSNP: rs797045118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Individualized Medicine, Mayo Clinic RCV000190647 SCV000245690 likely pathogenic Werner syndrome 2014-01-01 criteria provided, single submitter research
Invitae RCV000190647 SCV001229794 pathogenic Werner syndrome 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp163Cysfs*4) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 26296701). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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