ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2089-3024A>G (rs281865157)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032135 SCV001212505 pathogenic Werner syndrome 2019-04-01 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed to segregate with Werner syndrome in several families (PMID: 17478382), and has been described as a founder mutation in the North Sardinia region. ClinVar contains an entry for this variant (Variation ID: 38886). This variant has been reported to affect WRN mRNA splicing (PMID: 17478382). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000032135 SCV000055693 pathogenic Werner syndrome 2021-05-10 no assertion criteria 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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