ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly)

gnomAD frequency: 0.00002  dbSNP: rs751564052
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434919 SCV000535609 uncertain significance not provided 2024-12-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000644446 SCV000766142 likely benign Atrial septal defect 7 2024-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429460 SCV002680165 uncertain significance Cardiovascular phenotype 2023-12-30 criteria provided, single submitter clinical testing The p.A276G variant (also known as c.827C>G), located in coding exon 2 of the NKX2-5 gene, results from a C to G substitution at nucleotide position 827. The alanine at codon 276 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and glycine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000434919 SCV003815938 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224281 SCV003920279 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 criteria provided, single submitter clinical testing NKX2-5 NM_004387.3 exon 2 p.Ala276Gly (c.827C>G): This variant has not been reported in the literature but is present in 0.006% (7/105084) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/5-172659720-G-C). This variant is present in ClinVar (Variation ID:392351). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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