ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002371629 SCV002686750 uncertain significance Cardiovascular phenotype 2023-06-09 criteria provided, single submitter clinical testing The p.S311N variant (also known as c.932G>A), located in coding exon 2 of the NKX2-5 gene, results from a G to A substitution at nucleotide position 932. The serine at codon 311 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103577 SCV002992118 uncertain significance Atrial septal defect 7 2022-08-09 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with NKX2-5-related conditions. This variant is present in population databases (rs142368156, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 311 of the NKX2-5 protein (p.Ser311Asn).

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