ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.279T>A (p.Tyr93Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003510652 SCV004262251 pathogenic Atrial septal defect 7 2023-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr93*) in the NKX2-5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NKX2-5 are known to be pathogenic (PMID: 17891520, 20456451). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NKX2-5-related conditions. For these reasons, this variant has been classified as Pathogenic.

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