ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.434dup (p.Ser146fs)

dbSNP: rs2113901953
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895301 SCV002156363 pathogenic Atrial septal defect 7 2021-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser146Leufs*7) in the NKX2-5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 179 amino acid(s) 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 affected with NKX2-5-related conditions. This variant disrupts a region of the NKX2-5 protein in which other variant(s) (p.Ala262Argfs*32) have been determined to be pathogenic (PMID: 22920929; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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