ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4559C>T (p.Pro1520Leu)

gnomAD frequency: 0.00004  dbSNP: rs375867560
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539895 SCV000641824 uncertain significance Vici syndrome 2023-07-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1520 of the EPG5 protein (p.Pro1520Leu). This variant is present in population databases (rs375867560, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. ClinVar contains an entry for this variant (Variation ID: 466251). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EPG5 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002528405 SCV003615592 uncertain significance Inborn genetic diseases 2022-04-14 criteria provided, single submitter clinical testing The c.4559C>T (p.P1520L) alteration is located in exon 26 (coding exon 26) of the EPG5 gene. This alteration results from a C to T substitution at nucleotide position 4559, causing the proline (P) at amino acid position 1520 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.