ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.561A>G (p.Lys187=) (rs775802030)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179333 SCV000231565 pathogenic not provided 2014-10-14 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001095680 SCV001251453 likely pathogenic Werner syndrome criteria provided, single submitter research This variant was reported as a pathogenic variant in 2 individuals with Werner syndrome. The c.561A>G variant was reported to create a cryptic splice donor site resulting in a 98-bp deletion in the mRNA (r.557_654del98), which leads to a frameshift in the resulting WRN protein (p.Lys187Trpfs*13) (PMID: 23936869).
Invitae RCV001095680 SCV001560823 uncertain significance Werner syndrome 2020-04-02 criteria provided, single submitter clinical testing This sequence change affects codon 187 of the WRN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the WRN protein. This variant is present in population databases (rs775802030, ExAC 0.04%). This variant has been observed in individual(s) with Werner syndrome (PMID: 23936869). ClinVar contains an entry for this variant (Variation ID: 198099). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 23936869). 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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