ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.7183G>A (p.Val2395Met)

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 RCV002613326 SCV002954730 uncertain significance Vici syndrome 2022-02-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2395 of the EPG5 protein (p.Val2395Met). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is present in population databases (rs753475634, gnomAD 0.0009%).
Ambry Genetics RCV002613327 SCV003670936 uncertain significance Inborn genetic diseases 2022-12-13 criteria provided, single submitter clinical testing The c.7183G>A (p.V2395M) alteration is located in exon 41 (coding exon 41) of the EPG5 gene. This alteration results from a G to A substitution at nucleotide position 7183, causing the valine (V) at amino acid position 2395 to be replaced by a methionine (M). 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.