ClinVar Miner

Submissions for variant NM_000553.4(WRN):c.3690_3693delAGAC (p.Asp1231Serfs) (rs606231162)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000005779 SCV000820744 pathogenic Werner syndrome 2018-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1231Serfs*16) in the WRN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Werner syndrome (WS) in a family (PMID: 8602509, 8968742) and has been observed in combination with a second WRN variant in an individual affected with WS (PMID: 16786514). This variant is also known as 3919–3922 ACAG deletion in the literature. ClinVar contains an entry for this variant (Variation ID: 5446). Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005779 SCV000025961 pathogenic Werner syndrome 1996-12-01 no assertion criteria provided literature only

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