ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5602G>T (p.Gly1868Trp)

dbSNP: rs762207905
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624316 SCV000740893 uncertain significance Inborn genetic diseases 2015-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000685343 SCV000812821 uncertain significance Vici syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 1868 of the EPG5 protein (p.Gly1868Trp). This variant is present in population databases (rs762207905, gnomAD 0.01%). This missense change has been observed in individual(s) with symptoms consistent with Vici syndrome (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 520676). 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.

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