ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter)

gnomAD frequency: 0.00003  dbSNP: rs756503608
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041165 SCV001204765 pathogenic Vici syndrome 2023-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln906*) 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 (rs756503608, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with Vici syndrome associated with idiopathic thrombocytopenic purpura (ITP) (PMID: 26854214). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 839415). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001041165 SCV001529278 pathogenic Vici syndrome 2018-11-08 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease causing [PMID 26854214]
GeneDx RCV001574246 SCV001801033 pathogenic not provided 2023-12-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26854214, 31216405)

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