ClinVar Miner

Submissions for variant NC_000023.10:g.(?_132670132)_(132888223_?)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 RCV001032908 SCV001196215 pathogenic Wilms tumor 1 2019-09-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 3-8 of the GPC3 gene. The 5' boundary is likely confined to intron 2. 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 result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. A similar copy number variant has been observed in an individual affected with Simpson-Golabi-Behmel syndrome (PMID: 8958336). Sub-genic deletion of exons 6-8 has been determined to be pathogenic (PMID: 8589713). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic.

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