ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6765C>T (p.Pro2255=)

gnomAD frequency: 0.00011  dbSNP: rs200203116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793071 SCV000932407 uncertain significance Vici syndrome 2022-10-03 criteria provided, single submitter clinical testing This sequence change affects codon 2255 of the EPG5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EPG5 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200203116, gnomAD 0.07%). 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: 640115). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
PreventionGenetics, part of Exact Sciences RCV003965589 SCV004785211 likely benign EPG5-related condition 2019-04-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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