ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1112A>G (p.Lys371Arg)

dbSNP: rs2143748127
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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 RCV001884344 SCV002154193 uncertain significance Vici syndrome 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 371 of the EPG5 protein (p.Lys371Arg). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 1387987). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is not present in population databases (gnomAD no frequency).

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