ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.585del (p.Gln196fs)

dbSNP: rs2113901553
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001911633 SCV002174486 pathogenic Atrial septal defect 7 2021-01-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NKX2-5-related conditions. 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.Tyr259*) have been determined to be pathogenic (PMID: 10587520). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln196Serfs*36) in the NKX2-5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 129 amino acid(s) of the NKX2-5 protein.

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