ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2826-1G>C

dbSNP: rs756880457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001815970 SCV002063182 likely pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing
Invitae RCV003505191 SCV004294594 likely pathogenic Werner syndrome 2022-11-29 criteria provided, single submitter clinical testing Studies have shown that disruption of this splice site results in skipping of exon 24 and introduces a premature termination codon (PMID: 16673358). 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. ClinVar contains an entry for this variant (Variation ID: 1335708). Disruption of this splice site has been observed in individual(s) with Werner syndrome (PMID: 16673358). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 23 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.

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