Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548461 | SCV000629682 | pathogenic | Werner syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 28 of the WRN gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs776963381, gnomAD 0.004%). Disruption of this splice site has been observed in individual(s) with breast cancer (PMID: 26689913). This variant is also known as e28-1G>A. ClinVar contains an entry for this variant (Variation ID: 458446). Studies have shown that disruption of this splice site results in skipping of exon 29 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000548461 | SCV002811736 | pathogenic | Werner syndrome | 2022-04-20 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000548461 | SCV004208850 | likely pathogenic | Werner syndrome | 2023-06-15 | criteria provided, single submitter | clinical testing |