Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000533918 | SCV000623137 | pathogenic | Beckwith-Wiedemann syndrome | 2017-06-29 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 18-20 of the NSD1 gene. This creates a premature translational stop signal and is expected to 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:  12807965, 15942875, 17565729). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV003231632 | SCV001583370 | pathogenic | Sotos syndrome | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 18-20 of the NSD1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). This variant has not been reported in the literature in individuals affected with NSD1-related conditions. For these reasons, this variant has been classified as Pathogenic. |