ClinVar Miner

Submissions for variant NM_004387.3(NKX2-5):c.-229_334del

dbSNP: rs1581111034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818509 SCV000959127 pathogenic Atrial septal defect 7 2018-09-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the NKX2-5 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the NKX2-5 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NKX2-5-related disease. Loss-of-function variants in NKX2-5 are known to be pathogenic (PMID: 17891520, 20456451). For these reasons, this variant has been classified as Pathogenic.

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