ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.714G>A (p.Trp238Ter)

dbSNP: rs1594403990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989203 SCV001139432 likely pathogenic Brain-lung-thyroid syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001869360 SCV002245433 pathogenic not provided 2021-04-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg243 amino acid residue in NKX2-1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11971878, 28732825, 26640963, 22832740, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been observed in individual(s) with a NKX2-1 related condition (PMID: 28732825, Invitae). ClinVar contains an entry for this variant (Variation ID: 803016). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp238*) in the NKX2-1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 164 amino acid(s) of the NKX2-1 protein.

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