ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2089-3024A>G

dbSNP: rs281865157
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000032135 SCV001212505 pathogenic Werner syndrome 2024-02-19 criteria provided, single submitter clinical testing This sequence change falls in intron 18 of the WRN gene. It does not directly change the encoded amino acid sequence of the WRN protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with Werner syndrome (PMID: 17478382). It is commonly reported in individuals of North Sardinian ancestry (PMID: 17478382). ClinVar contains an entry for this variant (Variation ID: 38886). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000032135 SCV005055827 likely pathogenic Werner syndrome 2024-02-26 criteria provided, single submitter clinical testing
GeneReviews RCV000032135 SCV000055693 not provided Werner syndrome no assertion provided literature only A founder variant in the Sardinian population. Creates a new exon between exons 18 and 19 that introduces a stop codon and alters the length of the protein.

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