ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1664_1666del (p.Glu555del)

dbSNP: rs1568179586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707494 SCV000836594 uncertain significance Vici syndrome 2021-08-27 criteria provided, single submitter clinical testing This variant, c.1664_1666del, results in the deletion of 1 amino acid(s) of the EPG5 protein (p.Glu555del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. 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.
GeneDx RCV001772015 SCV001994151 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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