ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.551T>A (p.Ile184Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003005548 SCV003304032 uncertain significance Atrial septal defect 7 2022-01-26 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. This variant disrupts the p.Ile184 amino acid residue in NKX2-5. Other variant(s) that disrupt this residue have been observed in individuals with NKX2-5-related conditions (PMID: 23661673, 27855642), which suggests that this may be a clinically significant amino acid residue. 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 disruptive. This variant has not been reported in the literature in individuals affected with NKX2-5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 184 of the NKX2-5 protein (p.Ile184Asn).

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