ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3590del (p.Asn1197fs) (rs281865160)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032139 SCV000629699 pathogenic Werner syndrome 2017-03-21 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 31 of the WRN mRNA (c.3590delA), causing a frameshift at codon 1197. This creates a premature translational stop signal (p.Asn1197Thrfs*2) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in WRN are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with Werner syndrome (PMID: 16673358, 20443122). This variant is also known as 3587delA in the literature. ClinVar contains an entry for this variant (Variation ID: 38890). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000032139 SCV000055698 pathogenic Werner syndrome 2021-05-10 no assertion criteria provided literature only Potential founder variant in the Dutch population.

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