Submissions for variant NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)

gnomAD frequency: 0.00173  dbSNP: rs191244915

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000642217	SCV000763871	benign	Vici syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000642217	SCV000898666	uncertain significance	Vici syndrome	2021-03-30	criteria provided, single submitter	clinical testing	EPG5: NM_020964 exon 64 p.Met2499Val (c.7495A>G): This variant has not been reported in the literature but is present in 0.4% (115/24016) of African alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs191244915). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx	RCV001706694	SCV001819465	likely benign	not provided	2020-10-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918035	SCV004736088	likely benign	EPG5-related disorder	2022-05-25	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).