ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4284del (p.Gly1429fs)

dbSNP: rs2130530564
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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 RCV002041330 SCV002110312 uncertain significance Werner syndrome 2021-10-21 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 is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the WRN gene (p.Gly1429Valfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the WRN protein and extend the protein by 14 additional amino acid residues. This variant has not been reported in the literature in individuals affected with WRN-related conditions. 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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