ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3801A>G (p.Gln1267=)

gnomAD frequency: 0.00001  dbSNP: rs779902531
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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 RCV000542580 SCV000629707 likely benign Werner syndrome 2024-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403263 SCV004104559 uncertain significance WRN-related disorder 2022-10-24 criteria provided, single submitter clinical testing The WRN c.3801A>G variant is not predicted to result in an amino acid change (p.=). This variant is predicted to alter splicing based on available splicing prediction programs (Alamut Visual v2.11). However, the use of computer prediction programs is not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-31012253-A-G) and is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/458468/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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