Submissions for variant NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter)

gnomAD frequency: 0.00001  dbSNP: rs374321183

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Kids Research, The Children's Hospital at Westmead	RCV001089500	SCV001244745	pathogenic	Vici syndrome		criteria provided, single submitter	research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001089500	SCV003933986	pathogenic	Vici syndrome	2023-05-24	criteria provided, single submitter	clinical testing	Variant summary: KIAA1632 (EPG5) c.4327C>T (p.Gln1443X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 201728 control chromosomes (gnomAD). c.4327C>T has been reported in the literature as a compound heterozygous genotype in at least one individual affected with Vici Syndrome (e.g. Balasubramaniam_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 29159459). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.