ClinVar Miner

Submissions for variant NM_004484.3(GPC3):c.1574-?_*379+?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 RCV000230522 SCV000288569 pathogenic Wilms tumor 1 2016-02-03 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GPC3 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While a whole gene deletion of GPC3 has not been reported in the literature, other gross deletions in GPC3 are known to be pathogenic (PMID: 9192268, 12713262). For these reasons, this variant has been classified as Pathogenic.

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