ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys)

dbSNP: rs750029908
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208971 SCV001380389 likely benign Atrial septal defect 7 2023-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491634 SCV002782112 uncertain significance Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congenital, nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 2021-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033752 SCV005022427 uncertain significance Cardiovascular phenotype 2024-02-25 criteria provided, single submitter clinical testing The p.N129K variant (also known as c.387C>A), located in coding exon 2 of the NKX2-5 gene, results from a C to A substitution at nucleotide position 387. The asparagine at codon 129 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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