ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.935dup (p.Gln313fs) (rs1594403511)

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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 RCV000787039 SCV000925954 likely pathogenic Choreoathetosis, hypothyroidism, and neonatal respiratory distress 2019-03-25 criteria provided, single submitter clinical testing This frameshift variant is predicted to lead to a new stop codon that is downstream of the native stop codon. The resulting transcript is not expected to undergo nonsense-mediated decay and likely results in an extended protein product (125 novel C-terminal amino acids replacing the last 89 amino acids of NKX2-1). The glutamine rich region, predicted to be missing from the resulting protein, has an important role in NKX2-1 transactivation. This NKX2-1 variant is absent* from large population datasets and has not been reported in ClinVar nor the literature, to our knowledge. This variant is considered likely pathogenic.

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