ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)

dbSNP: rs1568133760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV000768397 SCV006555394 pathogenic Vici syndrome 2025-08-25 criteria provided, single submitter clinical testing PVS1, PM2
Baylor Genetics RCV000768397 SCV001524692 pathogenic Vici syndrome 2019-07-17 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
SIB Swiss Institute of Bioinformatics RCV000768397 SCV000899148 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..

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