ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3851_3982+449del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385931 SCV001585951 pathogenic Werner syndrome 2020-07-06 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 33 (c.3851_3982+449del) of the WRN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of Werner syndrome (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). For these reasons, this variant has been classified as Pathogenic.

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