ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys)

gnomAD frequency: 0.00002  dbSNP: rs751684900
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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 RCV001315155 SCV001505713 uncertain significance Atrial septal defect 7 2023-07-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NKX2-5-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NKX2-5 protein function. ClinVar contains an entry for this variant (Variation ID: 1016187). This variant is present in population databases (rs751684900, gnomAD 0.02%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 217 of the NKX2-5 protein (p.Arg217Lys).
Fulgent Genetics, Fulgent Genetics RCV002504484 SCV002815939 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 2021-07-01 criteria provided, single submitter clinical testing

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