ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.944T>G (p.Leu315Ter)

dbSNP: rs1813280584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221003 SCV001393021 pathogenic Werner syndrome 2021-01-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with WRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 949529). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu315*) 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).
Baylor Genetics RCV001221003 SCV004208805 likely pathogenic Werner syndrome 2023-10-12 criteria provided, single submitter clinical testing

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