ClinVar Miner

Submissions for variant NC_000018.9:g.(?_43432432)_(43462472_?)del

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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 RCV001952778 SCV002213574 uncertain significance Vici syndrome 2021-03-27 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with EPG5-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 31-44 of the EPG5 gene. The 5' boundary is likely confined to intron 30. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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