Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549633 | SCV000632676 | pathogenic | Generalized juvenile polyposis/juvenile polyposis coli | 2017-03-17 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 9-10 of the SMAD4 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SMAD4 are known to be pathogenic (PMID: 17873119, 16152648). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001382025 | SCV001580616 | pathogenic | Juvenile polyposis syndrome | 2017-03-13 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 9-10 of the SMAD4 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SMAD4 are known to be pathogenic (PMID: 17873119, 16152648). For these reasons, this variant has been classified as Pathogenic. |