ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1830G>A (p.Met610Ile)

gnomAD frequency: 0.00012  dbSNP: rs200214318
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 RCV001038573 SCV001202050 uncertain significance Vici syndrome 2022-09-21 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 610 of the EPG5 protein (p.Met610Ile). This variant is present in population databases (rs200214318, gnomAD 0.03%). 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: 837275). 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 not 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 RCV002551425 SCV003681946 uncertain significance Inborn genetic diseases 2022-09-28 criteria provided, single submitter clinical testing The c.1830G>A (p.M610I) alteration is located in exon 9 (coding exon 9) of the EPG5 gene. This alteration results from a G to A substitution at nucleotide position 1830, causing the methionine (M) at amino acid position 610 to be replaced by an isoleucine (I). 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.