ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6112T>C (p.Cys2038Arg)

dbSNP: rs375057925
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000768385 SCV000899150 uncertain significance Vici syndrome 2019-01-17 criteria provided, single submitter curation This variant is interpreted as a Uncertain significance 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. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:23222957).

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