Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV000787030 | SCV000925942 | uncertain significance | Brain-lung-thyroid syndrome | 2019-03-05 | criteria provided, single submitter | clinical testing | This NKX2-1 variant is absent from large population datasets and has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be damaging, and the threonine residue at this position is highly evolutionarily conserved across most species assessed. This variant is located within the protein's DNA-binding homeodomain, which is important for the transcriptional activity of TTF-1 target genes. The clinical significance of c.698C>T is uncertain at this time. |