ClinVar Miner

Submissions for variant NC_000008.10:g.(?_30941261)_(30947629_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002045692 SCV002304822 likely pathogenic Werner syndrome 2022-10-05 criteria provided, single submitter clinical testing This variant results in the deletion of exons 11-13 and part of exon 10 (c.1316_1653-352delins) of the WRN gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). This variant has not been reported in the literature in individuals affected with WRN-related conditions. 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.

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