ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3384G>A (p.Gln1128=)

dbSNP: rs2050035169
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035758 SCV001199093 uncertain significance Vici syndrome 2019-05-20 criteria provided, single submitter clinical testing This sequence change affects codon 1128 of the EPG5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EPG5 protein. This variant also falls at the last nucleotide of exon 18 of the EPG5 coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EPG5-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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