ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs)

dbSNP: rs1761438700
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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 RCV001216063 SCV001387837 pathogenic Atrial septal defect 7 2019-08-01 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NKX2-5 gene (p.Glu54Alafs*125). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 271 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. This variant disrupts the C-terminus of the NKX2-5 protein. Other variant(s) that disrupt this region (p.Gln170*) have been determined to be pathogenic (PMID: 21561848, 9651244, 10948187). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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