ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.502_503del (p.Lys168fs)

dbSNP: rs776785728
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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 RCV000472438 SCV000541394 pathogenic Werner syndrome 2024-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys168Alafs*10) 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 (rs776785728, gnomAD 0.09%). This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 9225981, 18810497). This variant is also known as c.733_734delAA. ClinVar contains an entry for this variant (Variation ID: 403979). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000472438 SCV004208800 pathogenic Werner syndrome 2024-03-13 criteria provided, single submitter clinical testing

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