ClinVar Miner

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

dbSNP: rs281865160
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032139 SCV000629699 pathogenic Werner syndrome 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1197Thrfs*2) in the WRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 16673358, 20443122). This variant is also known as 3587delA. ClinVar contains an entry for this variant (Variation ID: 38890). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000032139 SCV002811653 likely pathogenic Werner syndrome 2022-01-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000032139 SCV004208836 pathogenic Werner syndrome 2023-07-31 criteria provided, single submitter clinical testing
GeneReviews RCV000032139 SCV000055698 not provided Werner syndrome no assertion provided literature only Potential founder variant in the Dutch population.

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