Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000494526 | SCV000581964 | uncertain significance | not provided | 2017-11-15 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the NR2F1 gene. The G71S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G71S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G71S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Ambry Genetics | RCV004955540 | SCV005466303 | uncertain significance | Inborn genetic diseases | 2024-07-30 | criteria provided, single submitter | clinical testing | The c.211G>A (p.G71S) alteration is located in exon 1 (coding exon 1) of the NR2F1 gene. This alteration results from a G to A substitution at nucleotide position 211, causing the glycine (G) at amino acid position 71 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |