ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3886C>G (p.His1296Asp)

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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 RCV003654637 SCV004519382 uncertain significance Vici syndrome 2023-09-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is present in population databases (rs757564770, gnomAD 0.007%). This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 1296 of the EPG5 protein (p.His1296Asp). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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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