Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000032139 | SCV000629699 | pathogenic | Werner syndrome | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn1197Thrfs*2) 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 Werner syndrome (PMID: 16673358, 20443122). This variant is also known as 3587delA. ClinVar contains an entry for this variant (Variation ID: 38890). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000032139 | SCV002811653 | likely pathogenic | Werner syndrome | 2022-01-13 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000032139 | SCV004208836 | pathogenic | Werner syndrome | 2023-07-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000032139 | SCV000055698 | not provided | Werner syndrome | no assertion provided | literature only | Potential founder variant in the Dutch population. |