Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001032714 | SCV001196021 | pathogenic | Wilms tumor 1 | 2019-11-15 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the GPC3 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion has been reported in a family affected with Simpson Golabi Behmel syndrome (PMID: 8958336). Loss-of-function variants in GPC3 are known to be pathogenic (PMID: 12713262, 17603795). For these reasons, this variant has been classified as Pathogenic. |