ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.246dup (p.Ala83fs)

dbSNP: rs1761434175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222867 SCV001394989 pathogenic Atrial septal defect 7 2019-06-13 criteria provided, single submitter clinical testing 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 sequence change results in a premature translational stop signal in the NKX2-5 gene (p.Ala83Cysfs*25). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 242 amino acids of the NKX2-5 protein. This variant is not present in population databases (ExAC no frequency). 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.

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