Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204028 | SCV001375214 | pathogenic | Wilms tumor 1 | 2023-08-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 935437). This premature translational stop signal has been observed in individuals with Simpson-Golabi-Behmel syndrome (PMID: 17603795, 20683991, 20950395). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg86*) in the GPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GPC3 are known to be pathogenic (PMID: 10402475, 12713262, 17603795). |
Ambry Genetics | RCV001265782 | SCV001443952 | pathogenic | Inborn genetic diseases | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001543562 | SCV001762222 | pathogenic | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing |