ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3310-11T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002847701 SCV003228973 uncertain significance Werner syndrome 2022-08-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WRN-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is present in population databases (rs754588248, gnomAD 0.004%). This sequence change falls in intron 27 of the WRN gene. It does not directly change the encoded amino acid sequence of the WRN protein.

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