ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)

dbSNP: rs1568107449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761428 SCV000891499 pathogenic Vici syndrome 2017-12-30 criteria provided, single submitter curation
SIB Swiss Institute of Bioinformatics RCV000761428 SCV000899154 likely pathogenic Vici syndrome 2019-01-17 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Vici syndrome, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1 => Predicted nullvariant in a gene where LOF is a known mechanism of disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000761428 SCV004297836 pathogenic Vici syndrome 2023-03-18 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: 623301). This premature translational stop signal has been observed in individual(s) with Vici syndrome (PMID: 26917586). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp2028*) 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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