ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)

dbSNP: rs756974215
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462724 SCV000551864 uncertain significance Atrial septal defect 7 2024-03-21 criteria provided, single submitter clinical testing This variant, c.871_873del, results in the deletion of 1 amino acid(s) of the NKX2-5 protein (p.Asn291del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs756974215, gnomAD 0.003%). This variant has been observed in individual(s) with congenital heart disease (PMID: 14607454). ClinVar contains an entry for this variant (Variation ID: 410969). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002374804 SCV002684160 uncertain significance Cardiovascular phenotype 2025-01-10 criteria provided, single submitter clinical testing The c.871_873delAAC variant (also known as p.N291del) is located in coding exon 2 of the NKX2-5 gene. This variant results from an in-frame AAC deletion at nucleotide positions 871 to 873. This results in the in-frame deletion of an asparagine at codon 291. This variant was reported in individual(s) with features consistent with congenital heart defects (McElhinney DB et al. J Am Coll Cardiol, 2003 Nov;42:1650-5; Abou Hassan OK et al. Sci Rep, 2015 Mar;5:8848). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002489071 SCV002801481 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 2022-04-01 criteria provided, single submitter clinical testing
OMIM RCV000023022 SCV000044313 pathogenic Double outlet right ventricle 2003-11-05 no assertion criteria provided literature only

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