ClinVar Miner

Submissions for variant NM_021005.4(NR2F2):c.269A>G (p.His90Arg)

dbSNP: rs2141166925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001375025 SCV001572313 uncertain significance Neurodevelopmental disorder 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871964 SCV002288731 uncertain significance Congenital heart defects, multiple types, 4 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 90 of the NR2F2 protein (p.His90Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NR2F2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1064859). 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) performed at Invitae indicates that this missense variant is expected to disrupt NR2F2 protein function. 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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