Submissions for variant NM_020964.3(EPG5):c.4891G>A (p.Ala1631Thr)

gnomAD frequency: 0.00116  dbSNP: rs182512524

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000973577	SCV001121342	likely benign	Vici syndrome	2025-01-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004586993	SCV005077468	uncertain significance	not specified	2024-04-04	criteria provided, single submitter	clinical testing	Variant summary: EPG5 c.4891G>A (p.Ala1631Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00021 in 248742 control chromosomes. To our knowledge, no occurrence of c.4891G>A in individuals affected with Vici Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 790739). Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences	RCV004751842	SCV005363416	likely benign	EPG5-related disorder	2024-08-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).