ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4081del (p.Ser1361fs)

dbSNP: rs1803921888
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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 RCV001343941 SCV001537961 uncertain significance Werner syndrome 2020-09-09 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 with WRN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the WRN gene (p.Ser1361Alafs*32). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 72 amino acids of the WRN protein.

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