Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV003232066 | SCV000782186 | likely pathogenic | Sotos syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Johns Hopkins Genomics, |
RCV003232066 | SCV001425399 | likely pathogenic | Sotos syndrome | 2020-04-10 | criteria provided, single submitter | clinical testing | This NSD1 variant is absent from a large population dataset. A single submitter in ClinVar classifies this variant as likely pathogenic. Three bioinformatic tools queried predict that this substitution would be damaging, and the cysteine residue at this position is evolutionarily conserved across all species assessed. As this variant is apparently de novo and consistent with this patient's clinical findings, we consider it to be likely pathogenic. |