ClinVar Miner

Submissions for variant NC_000008.11:g.(?_31059147)_(31059271_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530791 SCV000629603 pathogenic Werner syndrome 2017-06-15 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the WRN gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a WRN-related disease. 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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