ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2103_2104del (p.Leu702fs)

dbSNP: rs1383589957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525763 SCV000629637 pathogenic Werner syndrome 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu702Tyrfs*29) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 15888165). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 2334delAC. ClinVar contains an entry for this variant (Variation ID: 458404). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000525763 SCV004208804 pathogenic Werner syndrome 2023-10-15 criteria provided, single submitter clinical testing

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