Total submissions: 3
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, |
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 |