ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.777C>G (p.Tyr259Ter)

dbSNP: rs1057520670
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432384 SCV000516828 likely pathogenic not provided 2023-12-26 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 66 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 10587520, 32369864)

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