ClinVar Miner

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

dbSNP: rs775802030
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV001095680 SCV001560823 pathogenic Werner syndrome 2024-03-11 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. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs775802030, gnomAD 0.03%). This variant has been observed in individuals with Werner syndrome (PMID: 23936869; Invitae). ClinVar contains an entry for this variant (Variation ID: 198099). Studies have shown that this variant alters WRN gene expression (PMID: 23936869). Studies have shown that this variant results in partial deletion of exon 6 and introduces a premature termination codon (PMID: 23936869). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001095680 SCV004208798 likely pathogenic Werner syndrome 2024-03-03 criteria provided, single submitter clinical testing

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