ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.278_306del (p.Ala93fs)

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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 RCV001200886 SCV001371791 pathogenic Choreoathetosis, hypothyroidism, and neonatal respiratory distress 2020-01-10 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 (335 novel C-terminal amino acids replacing the last 308 amino acids of NKX2-1). This novel protein is predicted to lack the NKX2-1 homeodomain, a highly conserved DNA binding motif that is essential for the function of NKX2-1. NKX2-1 c.278_306del has been reported in an individual with chorea. This variant is absent from a large population dataset. We consider this variant to be pathogenic.

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