ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5322del (p.Trp1774fs)

dbSNP: rs2511593392
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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 RCV003539502 SCV004245241 pathogenic Vici syndrome 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1774Cysfs*2) 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). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. For these reasons, this variant has been classified as Pathogenic.

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