ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.7373C>T (p.Ala2458Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003002938 SCV003304453 uncertain significance Vici syndrome 2022-10-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EPG5-related conditions. 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. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2458 of the EPG5 protein (p.Ala2458Val).

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