ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3244del (p.Val1082fs)

dbSNP: rs745905108
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389950 SCV001591509 pathogenic Werner syndrome 2024-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1082Tyrfs*17) 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 (rs745905108, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with WRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1076156). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001389950 SCV002794399 likely pathogenic Werner syndrome 2022-02-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV001389950 SCV004208894 likely pathogenic Werner syndrome 2022-09-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963252 SCV004780581 likely pathogenic WRN-related condition 2024-02-29 criteria provided, single submitter clinical testing The WRN c.3244delG variant is predicted to result in a frameshift and premature protein termination (p.Val1082Tyrfs*17). To our knowledge, this variant has not been reported in individuals with WRN-related disorders. This variant is reported in 0.0056% of alleles in individuals of East Asian descent in gnomAD. Frameshift variants in WRN are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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