ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val)

gnomAD frequency: 0.00001  dbSNP: rs772777352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768201 SCV000898668 uncertain significance Vici syndrome 2021-03-30 criteria provided, single submitter clinical testing EPG5 NM_020964.2 exon 19 p.Leu1166Val (c.3496C>G): This variant has not been reported in the literature and is present in 0.03% (11/34522) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/18-43496060-G-C). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000768201 SCV001448991 uncertain significance Vici syndrome 2019-03-18 criteria provided, single submitter clinical testing
Invitae RCV000768201 SCV001484807 uncertain significance Vici syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1166 of the EPG5 protein (p.Leu1166Val). This variant is present in population databases (rs772777352, 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: 626097). 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: "Deleterious"; PolyPhen-2: "Probably 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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