ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3216G>A (p.Lys1072=)

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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 RCV003080491 SCV003485551 uncertain significance Werner syndrome 2022-10-02 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This sequence change affects codon 1072 of the WRN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the WRN protein. 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.

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