ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.721C>T (p.Arg241Ter)

dbSNP: rs372940918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332380 SCV001524694 likely pathogenic Vici syndrome 2019-12-09 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332380 SCV003442590 pathogenic Vici syndrome 2023-09-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1030744). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is present in population databases (rs372940918, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg241*) in the EPG5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EPG5 are known to be pathogenic (PMID: 23222957, 23674064).

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