ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5304+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144961 SCV003830618 likely pathogenic Vici syndrome 2022-10-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003395713 SCV004120806 likely pathogenic EPG5-related disorder 2022-08-26 criteria provided, single submitter clinical testing The EPG5 c.5304+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in EPG5 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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