Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469904 | SCV000545487 | pathogenic | Drash syndrome; Frasier syndrome; Wilms tumor 1 | 2016-06-12 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 3 of the WT1 mRNA (c.797delC), causing a frameshift at codon 266. This creates a premature translational stop signal (p.Pro266Argfs*20) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in WT1 are known to be pathogenic (PMID: 15150775). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001381624 | SCV001580102 | pathogenic | Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome | 2016-06-12 | criteria provided, single submitter | clinical testing | While this particular variant has not been reported in the literature, truncating variants in WT1 are known to be pathogenic (PMID: 15150775). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 3 of the WT1 mRNA (c.797delC), causing a frameshift at codon 266. This creates a premature translational stop signal (p.Pro266Argfs*20) and is expected to result in an absent or disrupted protein product. |