ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3037_3038del (p.Ser1013fs) (rs759972548)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535445 SCV000629675 pathogenic Werner syndrome 2017-02-08 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 25 of the WRN mRNA (c.3037_3038delAG), causing a frameshift at codon 1013. This creates a premature translational stop signal (p.Ser1013Leufs*12) 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 to co-occur with a second pathogenic WRN variant in an individual affected with Werner syndrome (PMID: 10811130). This variant is also known as c.3265-3266delGA in the literature. For these reasons, this variant has been classified as Pathogenic.

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