ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3819+1G>C

dbSNP: rs748618811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237942 SCV001410734 likely pathogenic Werner syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 32 of the WRN gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 963847). 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).
Baylor Genetics RCV001237942 SCV004208910 uncertain significance Werner syndrome 2021-12-02 criteria provided, single submitter clinical testing

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