ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4072G>A (p.Glu1358Lys)

dbSNP: rs775481546
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202824 SCV000258167 uncertain significance not specified 2015-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239656 SCV001412545 uncertain significance Vici syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1358 of the EPG5 protein (p.Glu1358Lys). This variant is present in population databases (rs775481546, 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: 218782). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237764 SCV002011464 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619227 SCV005118862 uncertain significance Inborn genetic diseases 2024-03-15 criteria provided, single submitter clinical testing The c.4072G>A (p.E1358K) alteration is located in exon 23 (coding exon 23) of the EPG5 gene. This alteration results from a G to A substitution at nucleotide position 4072, causing the glutamic acid (E) at amino acid position 1358 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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