ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5653_5654del (p.Leu1885fs)

gnomAD frequency: 0.00001  dbSNP: rs759930622
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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 RCV001870174 SCV002120698 pathogenic Vici syndrome 2023-02-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1356590). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is present in population databases (rs759930622, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu1885Valfs*18) in the EPG5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EPG5 are known to be pathogenic (PMID: 23222957, 23674064).

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