Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003232235 | SCV001387075 | pathogenic | Sotos syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys1748*) in the NSD1 gene. It is expected to 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 is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NSD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 944845). For these reasons, this variant has been classified as Pathogenic. |