ClinVar Miner

Submissions for variant NC_000023.10:g.(?_132795738)_(132795898_?)dup

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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 RCV004583396 SCV005064501 likely pathogenic Wilms tumor 1 2018-06-19 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in GPC3 are known to be pathogenic (PMID: 12713262, 17603795). This variant has not been reported in the literature in individuals with GPC3-related disease. This variant results in a copy number gain of the genomic region encompassing exon 6 of the GPC3 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product.

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