ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.724+515A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002994345 SCV003297064 likely pathogenic Werner syndrome 2023-06-30 criteria provided, single submitter clinical testing 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. Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 2081507). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (rs191078968, gnomAD 0.06%). This sequence change falls in intron 7 of the WRN gene. It does not directly change the encoded amino acid sequence of the WRN protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.

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