ClinVar Miner

Submissions for variant NC_000005.10:g.(?_173232549)_(173245300_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032939 SCV001196246 pathogenic Atrial septal defect 7 2019-08-01 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the NKX2-5 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has been observed in an individual affected with atrial septal defect and atrioventricular block (PMID: 26014430). Large genomic deletions including NKX2-5 and additional genes have also been observed in affected individuals (PMID: 26014430, 25205790). 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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