ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2684T>C (p.Ile895Thr)

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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 RCV003654815 SCV004539758 uncertain significance Vici syndrome 2023-07-31 criteria provided, single submitter clinical testing This variant is present in population databases (rs757009134, gnomAD 0.002%). 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 expected to disrupt EPG5 protein function. This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 895 of the EPG5 protein (p.Ile895Thr).

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