ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3382del (p.Ser1128fs)

dbSNP: rs778872619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693200 SCV000821060 pathogenic Werner syndrome 2023-06-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser1128Valfs*34) in the WRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with WRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 571933).
Baylor Genetics RCV000693200 SCV005055845 likely pathogenic Werner syndrome 2023-12-08 criteria provided, single submitter clinical testing

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