ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3381_3383+76del

dbSNP: rs1585517902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813480 SCV000953841 likely pathogenic Werner syndrome 2023-08-08 criteria provided, single submitter clinical testing 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. Studies have shown that this variant results in skipping of exon 28 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 656954). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant results in the deletion of part of exon 28 (c.3381_3383+76del) of the WRN gene. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
Baylor Genetics RCV000813480 SCV004208870 likely pathogenic Werner syndrome 2023-04-05 criteria provided, single submitter clinical testing

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