ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.698C>T (p.Thr233Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics,Johns Hopkins University RCV000787030 SCV000925942 uncertain significance Choreoathetosis, hypothyroidism, and neonatal respiratory distress 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.

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