ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.778_784dup (p.Ala262fs)

dbSNP: rs2113901025
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001951013 SCV002243096 pathogenic Atrial septal defect 7 2021-01-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the NKX2-5 protein. Other variant(s) that disrupt this region (p.Ala262Argfs*32) have been determined to be pathogenic (PMID: 22920929). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individual(s) with clinical features of NKX2-5-related congenital heart disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the NKX2-5 gene (p.Ala262Glyfs*136). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 63 amino acid(s) of the NKX2-5 protein and extend the protein by 72 additional amino acid residues.

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