ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.385A>T (p.Asn129Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002756173 SCV003025200 uncertain significance Atrial septal defect 7 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 129 of the NKX2-5 protein (p.Asn129Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NKX2-5-related conditions. 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. 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 RCV004067929 SCV005022364 uncertain significance Cardiovascular phenotype 2024-01-07 criteria provided, single submitter clinical testing The p.N129Y variant (also known as c.385A>T), located in coding exon 2 of the NKX2-5 gene, results from an A to T substitution at nucleotide position 385. The asparagine at codon 129 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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