Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000708034 | SCV000837144 | pathogenic | Beckwith-Wiedemann syndrome | 2019-02-21 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 6 to 8 of the NSD1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NSD1-related disease. Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV003231599 | SCV001583371 | pathogenic | Sotos syndrome | 2019-02-18 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 6 to 8 of the NSD1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NSD1-related disease. Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). For these reasons, this variant has been classified as Pathogenic. |