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
Labcorp Genetics (formerly Invitae), Labcorp RCV001332380 SCV003442590 pathogenic Vici syndrome 2024-04-10 criteria provided, single submitter clinical testing 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). This variant is present in population databases (rs372940918, gnomAD 0.006%). 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: 1030744). For these reasons, this variant has been classified as Pathogenic.
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].

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