ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3233+1G>C

dbSNP: rs1563376793
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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 RCV000705760 SCV000834773 likely pathogenic Werner syndrome 2023-07-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 26 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Werner syndrome (PMID: 10220139, 10811130). This variant is also known as IVS26+1G>C. ClinVar contains an entry for this variant (Variation ID: 581823). Studies have shown that disruption of this splice site results in skipping of exon 26 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV000705760 SCV005055846 pathogenic Werner syndrome 2023-11-27 criteria provided, single submitter clinical testing

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