ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1898+2T>G

dbSNP: rs772319506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471062 SCV000541468 likely pathogenic Werner syndrome 2023-12-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 16 of the WRN gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs772319506, gnomAD 0.002%). 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: 404044). Studies have shown that disruption of this splice site results in skipping of exon 16, but is expected to preserve the integrity of the reading-frame (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000471062 SCV002813966 likely pathogenic Werner syndrome 2022-04-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000471062 SCV004208813 uncertain significance Werner syndrome 2023-09-08 criteria provided, single submitter clinical testing

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