ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6898dup (p.Met2300fs)

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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 RCV003039860 SCV003343906 pathogenic Vici syndrome 2022-04-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This sequence change creates a premature translational stop signal (p.Met2300Asnfs*25) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic.

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