ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.598_599del (p.Gln200fs)

dbSNP: rs2113901504
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385601 SCV001585496 pathogenic Atrial septal defect 7 2020-10-06 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.Tyr237*) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with NKX2-5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the NKX2-5 gene (p.Gln200Aspfs*51). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 125 amino acids of the NKX2-5 protein.

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