ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6049+4G>A

gnomAD frequency: 0.00004  dbSNP: rs200936655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907826 SCV002133582 uncertain significance Vici syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change falls in intron 35 of the EPG5 gene. It does not directly 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 (rs200936655, gnomAD 0.01%). 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: 1365080). Variants that disrupt 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 create or strengthen a splice site. 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.
Ambry Genetics RCV002550339 SCV003555822 uncertain significance Inborn genetic diseases 2021-04-15 criteria provided, single submitter clinical testing The c.6049+4G>A intronic alteration consists of a G to A substitution 4 nucleotides after exon 35 (coding exon 35) of the EPG5 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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