ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1254del (p.Ser419fs)

gnomAD frequency: 0.00001  dbSNP: rs2050902019
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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 RCV001047676 SCV001211653 pathogenic Vici syndrome 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser419Leufs*14) 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. ClinVar contains an entry for this variant (Variation ID: 844744). For these reasons, this variant has been classified as Pathogenic.

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