ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2221C>T (p.Arg741Ter)

gnomAD frequency: 0.00001  dbSNP: rs763089663
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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 RCV000633177 SCV000754392 pathogenic Werner syndrome 2024-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg741*) 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 (rs763089663, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 20443122). ClinVar contains an entry for this variant (Variation ID: 528094). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000633177 SCV004208817 pathogenic Werner syndrome 2024-03-16 criteria provided, single submitter clinical testing

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