ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.676G>A (p.Asp226Asn)

dbSNP: rs760528062
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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 RCV001064439 SCV001229342 uncertain significance Atrial septal defect 7 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 226 of the NKX2-5 protein (p.Asp226Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This missense change has been observed in individual(s) with congenital heart disease and congenital hypothyroidism (PMID: 21091212, 30240412). This variant is also known as c.852G>A, p.N226D. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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