ClinVar Miner

Submissions for variant NC_000023.10:g.(?_132833913)_(132834066_?)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 RCV004583374 SCV005064479 pathogenic Wilms tumor 1 2023-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GPC3-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the GPC3 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in GPC3 are known to be pathogenic (PMID: 10402475, 12713262, 17603795).

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