ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.803_808dup (p.Leu268_Pro269dup)

dbSNP: rs1431238343
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633213 SCV000754429 uncertain significance Werner syndrome 2022-10-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 528129). 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.803_808dup, results in the insertion of 2 amino acid(s) of the WRN protein (p.Leu268_Pro269dup), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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