ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.502_503del (p.Lys168fs) (rs776785728)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472438 SCV000541394 pathogenic Werner syndrome 2020-10-06 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 5 of the WRN mRNA (c.502_503delAA), causing a frameshift at codon 168. This creates a premature translational stop signal (p.Lys168Alafs*10) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in WRN are known to be pathogenic. This particular variant has been reported in the literature in individuals with Werner syndrome (PMID: 9225981, 18810497). This variant is also known as c.733_734delAA in the literature. For these reasons, this variant has been classified as Pathogenic.

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