ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6112T>G (p.Cys2038Gly)

gnomAD frequency: 0.00001  dbSNP: rs375057925
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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 RCV001055245 SCV001219624 uncertain significance Vici syndrome 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces cysteine with glycine at codon 2038 of the EPG5 protein (p.Cys2038Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and glycine. This variant is present in population databases (rs375057925, ExAC 0.009%). This missense change has been observed in individual(s) with primary immunodeficiency diseases (PMID: 27577878). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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