ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter)

dbSNP: rs1555673917
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605098 SCV000712102 pathogenic Vici syndrome 2016-05-16 criteria provided, single submitter clinical testing The p.Trp1233X variant in EPG5 has not been reported in patients and was absent form large population studies. This nonsense variant leads to a premature termin ation codon at position 1233, which is predicted to lead to a truncated or absen t protein. Biallelic loss of function of the EPG5 gene has been associated with Vici syndrome (Cullup 2012). In summary, the p.Trp1233X variant meets our criter ia to be classified as pathogenic for Vici syndrome in an autosomal recessive ma nner based upon its predicted functional impact and absence from controls.

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