ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4747C>T (p.His1583Tyr)

gnomAD frequency: 0.00007  dbSNP: rs535029628
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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 RCV001864834 SCV002126979 uncertain significance Vici syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1583 of the EPG5 protein (p.His1583Tyr). This variant is present in population databases (rs535029628, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1359889). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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