Submissions for variant NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)

gnomAD frequency: 0.00088  dbSNP: rs201067154

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000548885	SCV000641813	benign	Vici syndrome	2025-01-27	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000548885	SCV000898670	uncertain significance	Vici syndrome	2021-03-30	criteria provided, single submitter	clinical testing	EPG5 NM_020964.2 exon2 p.Ala72Thr (c.214G>A): This variant has not been reported in the literature but is present in 0.3% (86/30602) of South Asian alleles including 2 homozygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/18-43535154-C-T). This variant is present in ClinVar (Variation ID:466241). This variant amino acid threonine (Thr) is present in 4 species (alpaca, platypus, saker falcon, peregrine falcon) and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV001706669	SCV005041624	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	EPG5: BP4, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706669	SCV001931295	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706669	SCV001971524	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935457	SCV004747585	likely benign	EPG5-related disorder	2022-09-20	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).