ClinVar Miner

Submissions for variant NC_000005.9:g.(?_172657631)_(172661899_?)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 RCV003113467 SCV003793735 pathogenic Atrial septal defect 7 2022-07-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NKX2-5 protein in which other variant(s) (p.Thr178Met) have been determined to be pathogenic (PMID: 9651244, 12798584, 15810002). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with NKX2-5-related conditions. This variant results in the deletion of exon 2 and part of exon 1 (c.188_*1941del) of the NKX2-5 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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