ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs)

dbSNP: rs748860208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697109 SCV000825703 pathogenic Werner syndrome 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1011Argfs*11) 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 (rs748860208, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 10811130). This variant is also known as c.3259-3262delCAAA. ClinVar contains an entry for this variant (Variation ID: 575023). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000697109 SCV001950097 pathogenic Werner syndrome 2021-07-13 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_000553.6:c.673C>T.
Baylor Genetics RCV000697109 SCV004208886 pathogenic Werner syndrome 2023-02-17 criteria provided, single submitter clinical testing

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