ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter)

dbSNP: rs587776939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000033114 SCV000899141 pathogenic Vici syndrome 2019-01-17 criteria provided, single submitter curation This variant is interpreted as a 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. PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:23222957).
OMIM RCV000033114 SCV000056895 pathogenic Vici syndrome 2013-01-01 no assertion criteria provided literature only

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