ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter)

gnomAD frequency: 0.00001  dbSNP: rs761554022
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783200 SCV002022190 pathogenic Vici syndrome 2021-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001783200 SCV002783083 pathogenic Vici syndrome 2024-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001783200 SCV004539090 pathogenic Vici syndrome 2024-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg955*) 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 present in population databases (rs761554022, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Vici syndrome (PMID: 28615637). ClinVar contains an entry for this variant (Variation ID: 1322825). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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