ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3020del (p.Gly1007fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002634696 SCV002959892 pathogenic Werner syndrome 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1007Alafs*16) 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 0.006%). This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 18205852). This variant is also known as 3250delG. ClinVar contains an entry for this variant (Variation ID: 1923954). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002634696 SCV004208881 pathogenic Werner syndrome 2023-12-14 criteria provided, single submitter clinical testing

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