ClinVar Miner

Submissions for variant NC_000008.10:g.(?_30966107)_(30974054_?)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 RCV001378866 SCV001576549 likely pathogenic Werner syndrome 2020-08-27 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon(s) 19-20 of the WRN gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with WRN-related conditions. This variant disrupts part of the helicase domain of the WRN protein, which is required for protein function (PMID: 23045531, 16673358). While functional studies have not been performed to directly test the effect of this variant on WRN protein function, this suggests that disruption of this region of the protein is causative of disease. 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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