ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3044C>T (p.Ala1015Val)

gnomAD frequency: 0.00001  dbSNP: rs1135402736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753740 SCV001988358 uncertain significance not provided 2020-06-19 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28615637)
Labcorp Genetics (formerly Invitae), Labcorp RCV002519024 SCV003461822 uncertain significance Vici syndrome 2023-07-07 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 267458). This missense change has been observed in individual(s) with Vici syndrome (PMID: 28615637). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1015 of the EPG5 protein (p.Ala1015Val).

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