ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1253-1G>A

dbSNP: rs1470797555
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705878 SCV000834895 pathogenic Vici syndrome 2018-05-13 criteria provided, single submitter clinical testing Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EPG5 are known to be pathogenic (PMID: 23222957, 23674064). For these reasons, this variant has been classified as Pathogenic. A different variant affecting this nucleotide (c.c.1253-1G>T) has been determined to be pathogenic (PMID: 23222957). This suggests that this nucleotide is important for normal RNA splicing, and that other variants at this position may also be pathogenic. This variant has not been reported in the literature in individuals with EPG5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 3 of the EPG5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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