ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1178_1192dup (p.Ile397_Thr398insMetSerLeuAspIle)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003615220 SCV004522426 uncertain significance Werner syndrome 2023-07-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1178_1192dup, results in the insertion of 5 amino acid(s) of the WRN protein (p.Met393_Ile397dup), but otherwise preserves the integrity of the reading frame.

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