ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro)

dbSNP: rs1568104317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000768390 SCV000899157 uncertain significance Vici syndrome 2019-01-17 criteria provided, single submitter curation This variant is interpreted as a Uncertain significance for Vici syndrome, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:26917586).
Labcorp Genetics (formerly Invitae), Labcorp RCV000768390 SCV003442532 uncertain significance Vici syndrome 2022-05-25 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. This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 2092 of the EPG5 protein (p.Leu2092Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Vici syndrome (PMID: 26917586). ClinVar contains an entry for this variant (Variation ID: 626235). 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").

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